TMEM218[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355424	NM_001258244.2(TMEM218):c.317C>T (p.Pro106Leu)	TMEM218 (P106L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617205	NM_001258244.2(TMEM218):c.302A>G (p.His101Arg)	TMEM218 (H127R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 983526	NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)	TMEM218 (R80H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 983527	NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)	TMEM218 (R80C +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 39	GLikely pathogenic
Select item 983529	NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)	TMEM218 (R59* +3 more)	Single nucleotide variant (nonsense +2 more)	Meckel syndrome, type 4	GPathogenic
Select item 2461356	NM_001258244.2(TMEM218):c.133T>A (p.Phe45Ile)	TMEM218 (F45I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1677283	NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)	TMEM218 (R10S +2 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 39	GLikely pathogenic
Select item 3179175	NM_001258244.2(TMEM218):c.107C>T (p.Ala36Val)	TMEM218 (A71V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296626	NM_001258244.2(TMEM218):c.104C>T (p.Ala35Val)	TMEM218 (A35V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2523397	NM_001258244.2(TMEM218):c.32G>A (p.Gly11Asp)	TMEM218 (G46D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179176	NM_001258244.2(TMEM218):c.29C>T (p.Ala10Val)	TMEM218 (A10V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 983528	NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)	TMEM218 (G44V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2486116	NM_001258244.2(TMEM218):c.4G>T (p.Ala2Ser)	TMEM218 (A37S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642513	NM_001258244.2(TMEM218):c.-4C>T	TMEM218	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 3365136	NM_001258244.2(TMEM218):c.-152-2A>C	TMEM218	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance