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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2263355	NM_001142807.4(ACOXL):c.58C>T (p.Arg20Cys)	ACOXL (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304363	NM_001142807.4(ACOXL):c.148A>G (p.Thr50Ala)	ACOXL (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331773	NM_001142807.4(ACOXL):c.155T>A (p.Val52Glu)	ACOXL (V52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138602	NM_001142807.4(ACOXL):c.278C>A (p.Thr93Asn)	ACOXL (T93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326325	NM_001142807.4(ACOXL):c.280G>A (p.Glu94Lys)	ACOXL (E94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348775	NM_001142807.4(ACOXL):c.325A>G (p.Thr109Ala)	ACOXL (T109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458935	NM_001142807.4(ACOXL):c.377C>T (p.Ala126Val)	ACOXL (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398867	NM_001142807.4(ACOXL):c.442A>T (p.Ile148Leu)	ACOXL (I148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275190	NM_001142807.4(ACOXL):c.467A>T (p.His156Leu)	ACOXL, LOC126806307 (H156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467648	NM_001142807.4(ACOXL):c.470G>A (p.Cys157Tyr)	ACOXL, LOC126806307 (C157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372609	NM_001142807.4(ACOXL):c.571A>G (p.Ile191Val)	ACOXL (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368050	NM_001142807.4(ACOXL):c.682T>C (p.Phe228Leu)	ACOXL (F228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380345	NM_001142807.4(ACOXL):c.724G>T (p.Val242Leu)	ACOXL (V242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237480	NM_001142807.4(ACOXL):c.746C>T (p.Ala249Val)	ACOXL (A249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546544	NM_001142807.4(ACOXL):c.766A>G (p.Ile256Val)	ACOXL (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138644	NM_001142807.4(ACOXL):c.768A>G (p.Ile256Met)	ACOXL (I256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138649	NM_001142807.4(ACOXL):c.770C>G (p.Ala257Gly)	ACOXL (A257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211672	NM_001142807.4(ACOXL):c.856C>T (p.Arg286Trp)	ACOXL (R286W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289560	NM_001142807.4(ACOXL):c.865C>A (p.Pro289Thr)	ACOXL (P289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319845	NM_001142807.4(ACOXL):c.911C>T (p.Ala304Val)	ACOXL (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138656	NM_001142807.4(ACOXL):c.962G>A (p.Ser321Asn)	ACOXL (S321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262360	NM_001142807.4(ACOXL):c.965G>A (p.Arg322His)	ACOXL (R322H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300194	NM_001142807.4(ACOXL):c.1040G>A (p.Arg347His)	ACOXL (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612088	NM_001142807.4(ACOXL):c.1048A>G (p.Thr350Ala)	ACOXL (T350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604706	NM_001142807.4(ACOXL):c.1051G>A (p.Gly351Arg)	ACOXL (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138554	NM_001142807.4(ACOXL):c.1069C>T (p.Arg357Trp)	ACOXL (R357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138559	NM_001142807.4(ACOXL):c.1070G>A (p.Arg357Gln)	ACOXL (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249151	NM_001142807.4(ACOXL):c.1100A>G (p.Tyr367Cys)	ACOXL (Y367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552504	NM_001142807.4(ACOXL):c.1120G>C (p.Gly374Arg)	ACOXL (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363516	NM_001142807.4(ACOXL):c.1121G>A (p.Gly374Asp)	ACOXL (G404D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262370	NM_001142807.4(ACOXL):c.1226T>A (p.Val409Glu)	ACOXL (V409E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223812	NM_001142807.4(ACOXL):c.1253G>A (p.Arg418Gln)	ACOXL (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601623	NM_001142807.4(ACOXL):c.1283T>C (p.Val428Ala)	ACOXL (V428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138575	NM_001142807.4(ACOXL):c.1333C>T (p.His445Tyr)	ACOXL (H475Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138578	NM_001142807.4(ACOXL):c.1348T>G (p.Ser450Ala)	ACOXL (S480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615817	NM_001142807.4(ACOXL):c.1454A>G (p.Tyr485Cys)	ACOXL (Y485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138581	NM_001142807.4(ACOXL):c.1481G>A (p.Arg494Gln)	ACOXL (R494Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408664	NM_001142807.4(ACOXL):c.1481G>T (p.Arg494Leu)	ACOXL (R524L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398553	NM_001142807.4(ACOXL):c.1487G>T (p.Trp496Leu)	ACOXL (W496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138591	NM_001142807.4(ACOXL):c.1526C>T (p.Thr509Met)	ACOXL (T539M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138596	NM_001142807.4(ACOXL):c.1696C>T (p.Arg566Trp)	ACOXL (R566W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41