"Counsyl"[submitter] AND "TMEM216"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 556222	NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	TMEM216 (M1K)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +2 more	GUncertain significance
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 551429	NM_001173990.3(TMEM216):c.34+18_34+21del	TMEM216	Microsatellite (splice donor variant +1 more)	Joubert syndrome 2 +3 more	GConflicting classifications of pathogenicity
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 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 551831	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	TMEM216 (N55fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 2 +1 more	GLikely 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 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 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 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 557532	NM_001173990.3(TMEM216):c.230-9dup	TMEM216	Duplication (intron variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
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 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 554706	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	TMEM216 (Y51* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 2 +1 more	GLikely pathogenic
Select item 553034	NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	TMEM216 (L53fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 2 +1 more	GUncertain significance
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 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 552510	NM_001173990.3(TMEM216):c.432-10delinsAC	TMEM216	Indel (splice acceptor variant +1 more)	Joubert syndrome 2 +1 more	GUncertain significance

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Items: 21