ClinVar for MedGen (Select 482058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023630	NM_014324.6(AMACR):c.429G>C (p.Pro143=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 3013997	NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)	AMACR, C1QTNF3-AMACR (A15T)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 3011575	NM_014324.6(AMACR):c.247+16G>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 3004400	NM_014324.6(AMACR):c.1140T>C (p.Ala380=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +3 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 3003101	NM_014324.6(AMACR):c.552+16G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2999474	NM_014324.6(AMACR):c.519C>T (p.Arg173=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2997002	NM_014324.6(AMACR):c.637T>C (p.Leu213=)	AMACR, C1QTNF3-AMACR (V159A)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2995927	NM_014324.6(AMACR):c.663G>A (p.Thr221=)	AMACR, C1QTNF3-AMACR (D168N)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2961277	NM_014324.6(AMACR):c.843A>G (p.Ala281=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 2958171	NM_014324.6(AMACR):c.247+15C>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2909130	NM_014324.6(AMACR):c.39C>G (p.Gly13=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2909083	NM_014324.6(AMACR):c.669C>T (p.Tyr223=)	AMACR, C1QTNF3-AMACR (Q170*)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2892560	NM_014324.6(AMACR):c.1002C>T (p.Thr334=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2892070	NM_014324.6(AMACR):c.552+10A>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2849777	NM_014324.6(AMACR):c.108G>T (p.Arg36=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2841991	NM_014324.6(AMACR):c.740-8T>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2822059	NM_014324.6(AMACR):c.552+11A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2819130	NM_014324.6(AMACR):c.727C>T (p.Leu243=)	AMACR, C1QTNF3-AMACR (A189V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2816501	NM_014324.6(AMACR):c.392-20A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2810074	NM_014324.6(AMACR):c.252C>A (p.Val84=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2809657	NM_014324.6(AMACR):c.1026G>A (p.Arg342=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2798399	NM_014324.6(AMACR):c.21G>A (p.Ser7=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2795238	NM_014324.6(AMACR):c.774G>A (p.Gln258=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2767751	NM_014324.6(AMACR):c.72G>T (p.Leu24=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2755433	NM_014324.6(AMACR):c.1119T>C (p.Ile373=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2701571	NM_014324.6(AMACR):c.657C>T (p.Phe219=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2697282	NM_014324.6(AMACR):c.732G>A (p.Leu244=)	AMACR, C1QTNF3-AMACR (D191N)	Single nucleotide variant (synonymous variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2693122	NM_014324.6(AMACR):c.228G>A (p.Leu76=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2425942	NC_000005.9:g.(?_33986409)_(33989627_?)dup	AMACR	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2425941	NC_000005.9:g.(?_34007858)_(34008124_?)del	AMACR	Deletion	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2421549	NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)	AMACR, C1QTNF3-AMACR (R361C)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2418807	NM_014324.6(AMACR):c.21G>C (p.Ser7=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2418655	NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)	AMACR, C1QTNF3-AMACR (R51L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2380693	NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)	AMACR, C1QTNF3-AMACR (P146L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2203627	NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)	AMACR, C1QTNF3-AMACR (I372V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2202682	NM_014324.6(AMACR):c.740-13_740-12insTGG	AMACR, C1QTNF3-AMACR	Insertion (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2202681	NM_014324.6(AMACR):c.740-11T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2202004	NM_014324.6(AMACR):c.939C>T (p.Gly313=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2197596	NM_014324.6(AMACR):c.739+17C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2196649	NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)	AMACR, C1QTNF3-AMACR (F230Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2193469	NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)	AMACR, C1QTNF3-AMACR (G13R)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2189306	NM_014324.6(AMACR):c.303G>A (p.Arg101=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2188565	NM_014324.6(AMACR):c.564A>G (p.Thr188=)	AMACR, C1QTNF3-AMACR (S135G)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2186843	NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)	AMACR, C1QTNF3-AMACR (S7T)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2178040	NM_014324.6(AMACR):c.538A>G (p.Ile180Val)	AMACR, C1QTNF3-AMACR (I180V)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2171577	NM_014324.6(AMACR):c.226C>T (p.Leu76=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2170045	NM_014324.6(AMACR):c.126C>T (p.Asp42=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2160576	NM_014324.6(AMACR):c.391+4T>A	C1QTNF3-AMACR, AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2160377	NM_014324.6(AMACR):c.913C>T (p.His305Tyr)	C1QTNF3-AMACR, AMACR (H305Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2152458	NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)	AMACR, C1QTNF3-AMACR (K268T)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2148649	NM_014324.6(AMACR):c.248-18C>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2146934	NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)	AMACR, C1QTNF3-AMACR (F169S)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2145838	NM_014324.6(AMACR):c.394G>A (p.Val132Ile)	AMACR, C1QTNF3-AMACR (V132I)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2142361	NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)	AMACR, C1QTNF3-AMACR	Deletion (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2139222	NM_014324.6(AMACR):c.888G>A (p.Pro296=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2132435	NM_014324.6(AMACR):c.566C>T (p.Ala189Val)	AMACR, C1QTNF3-AMACR (A189V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2131214	NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)	AMACR, C1QTNF3-AMACR (D273A)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2128523	NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)	AMACR, C1QTNF3-AMACR (E148V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2120505	NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)	AMACR, C1QTNF3-AMACR (S115G)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2120383	NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)	AMACR, C1QTNF3-AMACR (R67L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2110923	NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser)	AMACR, C1QTNF3-AMACR (P335S)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2110450	NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)	AMACR, C1QTNF3-AMACR (R48L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2110353	NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)	AMACR, C1QTNF3-AMACR (D42N)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2104912	NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)	C1QTNF3-AMACR, AMACR (N376Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2100651	NM_014324.6(AMACR):c.30G>A (p.Glu10=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2097866	NM_014324.6(AMACR):c.552+3A>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2097583	NM_014324.6(AMACR):c.739+3A>C	C1QTNF3-AMACR, AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2097505	NM_014324.6(AMACR):c.856A>G (p.Ile286Val)	AMACR, C1QTNF3-AMACR (I286V)	Single nucleotide variant (missense variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2095208	NM_014324.6(AMACR):c.160G>C (p.Val54Leu)	AMACR, C1QTNF3-AMACR (V54L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2092944	NM_014324.6(AMACR):c.222T>C (p.Asp74=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2092491	NM_014324.6(AMACR):c.553-1G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (splice acceptor variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2091074	NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)	AMACR, C1QTNF3-AMACR (Q321E)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2090294	NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)	AMACR, C1QTNF3-AMACR (A2T)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2087582	NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)	AMACR, C1QTNF3-AMACR (I346V)	Single nucleotide variant (missense variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2077364	NM_014324.6(AMACR):c.476T>C (p.Met159Thr)	AMACR, C1QTNF3-AMACR (M159T)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2075253	NM_014324.6(AMACR):c.391+16del	C1QTNF3-AMACR, AMACR	Deletion (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GBenign
Select item 2058115	NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)	AMACR, C1QTNF3-AMACR (N333fs)	Insertion (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2047143	NM_014324.6(AMACR):c.275del (p.Pro92fs)	AMACR, C1QTNF3-AMACR (P92fs)	Deletion (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2035268	NM_014324.6(AMACR):c.462T>C (p.Ala154=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2019462	NM_014324.6(AMACR):c.585G>A (p.Leu195=)	AMACR, C1QTNF3-AMACR (V142M)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 2016505	NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)	AMACR, C1QTNF3-AMACR (S152N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2012723	NM_014324.6(AMACR):c.255G>A (p.Met85Ile)	AMACR, C1QTNF3-AMACR (M85I)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2010961	NM_014324.6(AMACR):c.496A>G (p.Met166Val)	AMACR, C1QTNF3-AMACR (M166V)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2009242	NM_014324.6(AMACR):c.247+12C>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 1998199	NM_014324.6(AMACR):c.552+12T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 1994800	NM_014324.6(AMACR):c.223G>C (p.Val75Leu)	AMACR, C1QTNF3-AMACR (V75L)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1994187	NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)	AMACR, C1QTNF3-AMACR (E10D)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1994166	NM_014324.6(AMACR):c.1108G>C (p.Asp370His)	AMACR, C1QTNF3-AMACR (D370H)	Single nucleotide variant (missense variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1993674	NM_014324.6(AMACR):c.38G>T (p.Gly13Val)	AMACR, C1QTNF3-AMACR (G13V)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1980053	NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)	AMACR, C1QTNF3-AMACR	Deletion (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1973565	NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)	AMACR, C1QTNF3-AMACR (E282D)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1972149	NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)	AMACR, C1QTNF3-AMACR (R40P)	Single nucleotide variant (missense variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1968861	NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)	AMACR, C1QTNF3-AMACR (S260N)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1968281	NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)	AMACR, C1QTNF3-AMACR (S314W)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1967865	NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)	AMACR, C1QTNF3-AMACR (F315L)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1967729	NM_014324.6(AMACR):c.984A>G (p.Ala328=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 1963198	NM_014324.6(AMACR):c.43del (p.Ala15fs)	AMACR, C1QTNF3-AMACR (A15fs)	Deletion (frameshift variant)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1961659	NM_014324.6(AMACR):c.843A>C (p.Ala281=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 1955413	NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)	AMACR, C1QTNF3-AMACR (F357S)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1950212	NM_014324.6(AMACR):c.219G>C (p.Ser73=)	C1QTNF3-AMACR, AMACR	Single nucleotide variant (synonymous variant)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign

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