"Ambry Genetics"[submitter] AND "TMCO5A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2455362	NM_152453.4(TMCO5A):c.4G>A (p.Glu2Lys)	TMCO5A (E2K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509046	NM_152453.4(TMCO5A):c.166C>T (p.Arg56Trp)	TMCO5A (R70W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526579	NM_152453.4(TMCO5A):c.221G>T (p.Arg74Met)	TMCO5A (R88M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237528	NM_152453.4(TMCO5A):c.281C>T (p.Thr94Met)	TMCO5A (T94M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541732	NM_152453.4(TMCO5A):c.316C>A (p.Leu106Ile)	TMCO5A (L120I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295674	NM_152453.4(TMCO5A):c.400C>A (p.Gln134Lys)	TMCO5A (Q148K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304168	NM_152453.4(TMCO5A):c.409G>A (p.Ala137Thr)	TMCO5A (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490823	NM_152453.4(TMCO5A):c.416A>C (p.Tyr139Ser)	TMCO5A (Y139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178328	NM_152453.4(TMCO5A):c.466G>C (p.Val156Leu)	TMCO5A (V156L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178329	NM_152453.4(TMCO5A):c.467T>G (p.Val156Gly)	TMCO5A (V170G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383709	NM_152453.4(TMCO5A):c.518C>T (p.Thr173Met)	TMCO5A (T173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335783	NM_152453.4(TMCO5A):c.547G>T (p.Ala183Ser)	TMCO5A (A197S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269674	NM_152453.4(TMCO5A):c.631A>T (p.Thr211Ser)	TMCO5A (T225S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178331	NM_152453.4(TMCO5A):c.637A>C (p.Thr213Pro)	TMCO5A (T227P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257723	NM_152453.4(TMCO5A):c.790A>G (p.Arg264Gly)	TMCO5A (R278G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487625	NM_152453.4(TMCO5A):c.806A>G (p.Lys269Arg)	TMCO5A (K269R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546604	NM_152453.4(TMCO5A):c.821T>C (p.Phe274Ser)	TMCO5A (F288S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369498	NM_152453.4(TMCO5A):c.863A>G (p.His288Arg)	TMCO5A (H288R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance