"Ambry Genetics"[submitter] AND "TMEM231"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2315275	NM_001077418.3(TMEM231):c.932G>T (p.Cys311Phe)	TMEM231 (C311F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261486	NM_001077418.3(TMEM231):c.931T>G (p.Cys311Gly)	TMEM231 (C311G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1479061	NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)	TMEM231 (V291M +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 2570144	NM_001077418.3(TMEM231):c.865A>T (p.Ile289Phe)	TMEM231 (I289F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2042720	NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)	TMEM231 (I173V +2 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 2138227	NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)	TMEM231 (I171M +2 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 1514731	NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)	TMEM231 (S328T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1303429	NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)	TMEM231 (A269T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 286672	NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)	TMEM231 (E317A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 208785	NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)	TMEM231 (E317K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 499740	NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)	TMEM231 (R303Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2288244	NM_001077418.3(TMEM231):c.748C>T (p.Arg250Ter)	TMEM231 (R134* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 380471	NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)	TMEM231 (D293G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 2485628	NM_001077418.3(TMEM231):c.712G>A (p.Ala238Thr)	TMEM231 (A238T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 39822	NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	TMEM231 (D209N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +4 more	GConflicting classifications of pathogenicity
Select item 1328803	NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)	TMEM231 (I195T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1420178	NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)	TMEM231 (R192Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1381391	NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)	TMEM231 (G187S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +3 more	GUncertain significance
Select item 2285634	NM_001077418.3(TMEM231):c.548C>T (p.Pro183Leu)	TMEM231 (P183L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316315	NM_001077418.3(TMEM231):c.497C>G (p.Pro166Arg)	TMEM231 (P50R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1417545	NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)	TMEM231 (S155T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1394358	NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)	TMEM231 (L133V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 871667	NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)	TMEM231 (P125A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +5 more	GConflicting classifications of pathogenicity
Select item 2540871	NM_001077418.3(TMEM231):c.278A>T (p.Gln93Leu)	TMEM231 (Q146L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985473	NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)	TMEM231 (N143S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 803273	NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)	TMEM231 (A135S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +1 more	GUncertain significance
Select item 523080	NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)	TMEM231 (D131Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2478908	NM_001077418.3(TMEM231):c.229A>C (p.Ser77Arg)	TMEM231 (S77R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2331569	NM_001077418.3(TMEM231):c.226G>C (p.Glu76Gln)	TMEM231 (E129Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1361692	NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)	TMEM231 (R62C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 648618	NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)	TMEM231 (P59Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2276400	NM_001077418.3(TMEM231):c.168G>T (p.Glu56Asp)	LOC130059440, TMEM231 (E109D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 565503	NM_001077418.3(TMEM231):c.139+47C>A	TMEM231 (S83*)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 11 +3 more	GPathogenic/Likely pathogenic
Select item 1426907	NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)	TMEM231 (G65R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 20 +2 more	GUncertain significance
Select item 799228	NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)	TMEM231 (R44W)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1446231	NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)	TMEM231 (S54L)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 516700	NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)	TMEM231 (R53C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +3 more	GConflicting classifications of pathogenicity
Select item 2080155	NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)	TMEM231 (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 11 +2 more	GUncertain significance
Select item 1026754	NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)	TMEM231 (T36I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 20 +3 more	GUncertain significance
Select item 2529767	NM_001077418.3(TMEM231):c.23C>T (p.Ser8Phe)	TMEM231 (S8F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 380470	NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)	TMEM231 (L3V)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 41