"Ambry Genetics"[submitter] AND "TMUB2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322532	NM_001076674.3(TMUB2):c.119C>T (p.Ala40Val)	TMUB2 (A40V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487934	NM_001076674.3(TMUB2):c.125T>C (p.Val42Ala)	TMUB2 (V33A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390070	NM_001076674.3(TMUB2):c.289A>G (p.Thr97Ala)	TMUB2 (T77A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263626	NM_001076674.3(TMUB2):c.290C>A (p.Thr97Asn)	TMUB2 (T88N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251808	NM_001076674.3(TMUB2):c.410T>C (p.Leu137Pro)	TMUB2 (L137P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245836	NM_001076674.3(TMUB2):c.515G>A (p.Gly172Asp)	TMUB2 (G152D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455118	NM_001076674.3(TMUB2):c.532C>T (p.Leu178Phe)	TMUB2 (L132F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2464525	NM_001076674.3(TMUB2):c.545A>G (p.Asn182Ser)	TMUB2 (N125S +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2590286	NM_001076674.3(TMUB2):c.555G>T (p.Glu185Asp)	TMUB2 (E165D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2475806	NM_001076674.3(TMUB2):c.586G>A (p.Val196Met)	TMUB2 (V187M +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2458213	NM_001076674.3(TMUB2):c.673C>T (p.Arg225Cys)	TMUB2 (R205C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2392143	NM_001076674.3(TMUB2):c.700G>A (p.Asp234Asn)	TMUB2 (D234N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280297	NM_001076674.3(TMUB2):c.880C>G (p.Gln294Glu)	TMUB2 (Q237E +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2411554	NM_001076674.3(TMUB2):c.902C>T (p.Thr301Ile)	TMUB2 (T244I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance