"Ambry Genetics"[submitter] AND "TMCO6"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2378024	NM_000591.4(CD14):c.1075G>A (p.Val359Met)	TMCO6, CD14 (V359M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222535	NM_000591.4(CD14):c.1018C>T (p.His340Tyr)	CD14, TMCO6 (H340Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408191	NM_000591.4(CD14):c.923G>A (p.Arg308Lys)	CD14, TMCO6 (R308K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520194	NM_000591.4(CD14):c.921C>A (p.Asn307Lys)	CD14, TMCO6 (N307K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261322	NM_000591.4(CD14):c.800C>T (p.Pro267Leu)	TMCO6, CD14 (P267L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325366	NM_000591.4(CD14):c.752C>G (p.Pro251Arg)	TMCO6, CD14 (P251R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396567	NM_000591.4(CD14):c.697G>C (p.Gly233Arg)	TMCO6, CD14 (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283812	NM_000591.4(CD14):c.560G>C (p.Cys187Ser)	CD14, TMCO6 (C187S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348860	NM_000591.4(CD14):c.434C>A (p.Ser145Tyr)	CD14, TMCO6 (S145Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281212	NM_000591.4(CD14):c.428C>G (p.Ala143Gly)	CD14, TMCO6 (A143G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286363	NM_000591.4(CD14):c.381G>T (p.Lys127Asn)	TMCO6, CD14 (K127N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394853	NM_000591.4(CD14):c.332G>A (p.Arg111His)	TMCO6, CD14 (R111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539662	NM_000591.4(CD14):c.292G>T (p.Ala98Ser)	CD14, TMCO6 (A98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212753	NM_000591.4(CD14):c.265C>T (p.Leu89Phe)	CD14, TMCO6 (L89F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478031	NM_000591.4(CD14):c.206T>G (p.Phe69Cys)	CD14, TMCO6 (F69C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616637	NM_018502.5(TMCO6):c.7A>G (p.Ser3Gly)	TMCO6 (S3G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230866	NM_018502.5(TMCO6):c.166G>A (p.Gly56Arg)	TMCO6 (G56R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540159	NM_018502.5(TMCO6):c.196G>A (p.Glu66Lys)	TMCO6 (E66K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458355	NM_018502.5(TMCO6):c.214C>T (p.Arg72Trp)	TMCO6 (R72W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240988	NM_018502.5(TMCO6):c.250G>C (p.Glu84Gln)	TMCO6 (E84Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410733	NM_018502.5(TMCO6):c.325A>G (p.Ser109Gly)	TMCO6 (S109G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619958	NM_018502.5(TMCO6):c.409C>G (p.His137Asp)	TMCO6 (H137D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332420	NM_018502.5(TMCO6):c.532G>A (p.Val178Met)	TMCO6 (V178M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349184	NM_018502.5(TMCO6):c.610C>G (p.His204Asp)	TMCO6 (H204D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354140	NM_018502.5(TMCO6):c.645G>C (p.Leu215Phe)	TMCO6 (L215F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607977	NM_018502.5(TMCO6):c.1010G>A (p.Arg337His)	TMCO6 (R337H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205362	NM_018502.5(TMCO6):c.1302T>G (p.Phe434Leu)	TMCO6 (F440L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 214710	NM_002488.5(NDUFA2):c.280G>A (p.Val94Ile)	NDUFA2, TMCO6 (V94I)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2232756	NM_002488.5(NDUFA2):c.253G>A (p.Asp85Asn)	TMCO6, NDUFA2 (D85N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2609192	NM_002488.5(NDUFA2):c.179A>C (p.Asp60Ala)	NDUFA2, TMCO6 (D60A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609191	NM_002488.5(NDUFA2):c.144T>A (p.Asn48Lys)	NDUFA2, TMCO6 (N48K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 31