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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2473189	NM_198834.3(ACACA):c.7043A>G (p.Asn2348Ser)	ACACA (N2348S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343742	NM_198834.3(ACACA):c.6812A>G (p.Asn2271Ser)	ACACA, LOC126862545 (N2156S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333287	NM_198834.3(ACACA):c.6694C>T (p.Arg2232Trp)	ACACA (R2195W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2018408	NM_198834.3(ACACA):c.6682G>A (p.Asp2228Asn)	ACACA (D2113N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234718	NM_198834.3(ACACA):c.6526C>T (p.Arg2176Trp)	ACACA (R2061W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618738	NM_198834.3(ACACA):c.6188C>T (p.Thr2063Met)	ACACA (T1948M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336691	NM_198834.3(ACACA):c.5875A>T (p.Ile1959Phe)	ACACA (I1864F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529924	NM_198834.3(ACACA):c.5686G>A (p.Gly1896Arg)	ACACA (G1801R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321969	NM_198834.3(ACACA):c.5662G>A (p.Ala1888Thr)	ACACA (A1793T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206966	NM_198834.3(ACACA):c.5578C>T (p.Arg1860Trp)	ACACA (R1823W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233503	NM_198834.3(ACACA):c.5573C>T (p.Thr1858Met)	ACACA (T1763M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299060	NM_198834.3(ACACA):c.5284G>A (p.Gly1762Arg)	ACACA (G1762R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603409	NM_198834.3(ACACA):c.5174T>C (p.Ile1725Thr)	ACACA (I1688T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311213	NM_198834.3(ACACA):c.5039G>A (p.Gly1680Asp)	ACACA (G1565D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615780	NM_198834.3(ACACA):c.4777A>T (p.Ile1593Phe)	ACACA (I1478F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596563	NM_198834.3(ACACA):c.4670C>T (p.Thr1557Met)	ACACA (T1520M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266041	NM_198834.3(ACACA):c.4643C>A (p.Ala1548Glu)	ACACA (A1453E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258061	NM_198834.3(ACACA):c.4106C>T (p.Ala1369Val)	ACACA (A1254V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520265	NM_198834.3(ACACA):c.3952C>G (p.Pro1318Ala)	ACACA (P1203A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217232	NM_198834.3(ACACA):c.3926C>T (p.Thr1309Met)	ACACA (T1194M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255195	NM_198834.3(ACACA):c.3892C>A (p.Pro1298Thr)	ACACA (P1183T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205319	NM_198834.3(ACACA):c.3252G>T (p.Gln1084His)	ACACA (Q1047H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379420	NM_198834.3(ACACA):c.2824A>G (p.Ser942Gly)	ACACA (S847G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521465	NM_198834.3(ACACA):c.2762G>A (p.Arg921Gln)	ACACA (R806Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623222	NM_198834.3(ACACA):c.2497T>G (p.Ser833Ala)	ACACA (S796A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544146	NM_198834.3(ACACA):c.2449G>A (p.Ala817Thr)	ACACA (A780T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399498	NM_198834.3(ACACA):c.2183A>G (p.Asn728Ser)	ACACA (N691S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272355	NM_198834.3(ACACA):c.1858A>G (p.Ile620Val)	ACACA (I505V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623750	NM_198834.3(ACACA):c.1045G>T (p.Ala349Ser)	ACACA (A254S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240641	NM_198834.3(ACACA):c.980A>G (p.Tyr327Cys)	ACACA (Y232C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398521	NM_198834.3(ACACA):c.788G>A (p.Gly263Asp)	ACACA (G226D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326630	NM_198834.3(ACACA):c.503T>C (p.Val168Ala)	ACACA (V53A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223427	NM_198834.3(ACACA):c.211A>G (p.Ser71Gly)	ACACA (S34G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261384	NM_173625.5(C17orf78):c.458C>A (p.Ala153Asp)	ACACA, C17orf78 (A153D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34