AMACR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 353221	NM_014324.6(AMACR):c.*2093A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353222	NM_014324.6(AMACR):c.*2088A>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (3 prime UTR variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353223	NM_014324.6(AMACR):c.*2044C>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 904696	NM_014324.6(AMACR):c.*1985G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353224	NM_014324.6(AMACR):c.*1961G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +1 more	GLikely benign
Select item 353225	NM_014324.6(AMACR):c.*1945A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 353226	NM_014324.6(AMACR):c.*1942C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 904697	NM_014324.6(AMACR):c.*1931G>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 904698	NM_014324.6(AMACR):c.*1928T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 904699	NM_014324.6(AMACR):c.*1875C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 904700	NM_014324.6(AMACR):c.*1862C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353227	NM_014324.6(AMACR):c.*1853G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 905486	NM_014324.6(AMACR):c.*1852C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GBenign
Select item 353228	NM_014324.6(AMACR):c.*1804G>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (3 prime UTR variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 905487	NM_014324.6(AMACR):c.*1764A>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353229	NM_014324.6(AMACR):c.*1727G>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GBenign
Select item 353230	NM_014324.6(AMACR):c.*1643T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353231	NM_014324.6(AMACR):c.*1622T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353232	NM_014324.6(AMACR):c.*1560G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353233	NM_014324.6(AMACR):c.*1367T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 905996	NM_014324.6(AMACR):c.*1366A>G	C1QTNF3-AMACR, AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 353234	NM_014324.6(AMACR):c.*1353G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 905997	NM_014324.6(AMACR):c.*1203A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 353235	NM_014324.6(AMACR):c.*1181G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353236	NM_014324.6(AMACR):c.*1178G>A	C1QTNF3-AMACR, AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353237	NM_014324.6(AMACR):c.*1144A>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 905998	NM_014324.6(AMACR):c.*1110G>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353238	NM_014324.6(AMACR):c.*1070C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 907019	NM_014324.6(AMACR):c.*1032G>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353239	NM_014324.6(AMACR):c.*982C>T	C1QTNF3-AMACR, SLC45A2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +2 more	GLikely benign
Select item 353240	NM_014324.6(AMACR):c.*976G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 353241	NM_014324.6(AMACR):c.*963C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +2 more	GBenign/Likely benign
Select item 907020	NM_014324.6(AMACR):c.*805C>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2276062	NM_014324.6(AMACR):c.*774A>G	AMACR, C1QTNF3-AMACR (I392V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 977348	NM_014324.6(AMACR):c.*760C>T	AMACR, C1QTNF3-AMACR (P387L)	Single nucleotide variant (non-coding transcript variant +2 more)	Seizure	GUncertain significance
Select item 353242	NM_014324.6(AMACR):c.*753T>G	AMACR, C1QTNF3-AMACR (L385V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GBenign
Select item 353243	NM_014324.6(AMACR):c.*714T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353244	NM_014324.6(AMACR):c.*663G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 353245	NM_014324.6(AMACR):c.*617G>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital bile acid synthesis defect 4 +3 more	GBenign/Likely benign
Select item 353246	NM_014324.6(AMACR):c.*573dup	AMACR, C1QTNF3-AMACR	Duplication (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353247	NM_014324.6(AMACR):c.*540T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 904773	NM_014324.6(AMACR):c.*523C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353248	NM_014324.6(AMACR):c.*449T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 904774	NM_014324.6(AMACR):c.*439A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 353249	NM_014324.6(AMACR):c.*233T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 353250	NM_014324.6(AMACR):c.*227T>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 597368	NM_014324.6(AMACR):c.1149A>C (p.Ter383Tyr)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
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 904775	NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn)	AMACR, C1QTNF3-AMACR (K379N)	Single nucleotide variant (non-coding transcript variant +3 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 2104912	NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)	AMACR, C1QTNF3-AMACR (N376Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 594184	NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly)	AMACR, C1QTNF3-AMACR (S375G)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
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 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 1353662	NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly)	AMACR, C1QTNF3-AMACR (D370G)	Single nucleotide variant (non-coding transcript variant +2 more)	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 (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1470318	NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg)	AMACR, C1QTNF3-AMACR (Q366R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 1400581	NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys)	AMACR, C1QTNF3-AMACR (E362K)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 595442	NM_014324.6(AMACR):c.1083C>T (p.Arg361=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1448041	NM_014324.6(AMACR):c.1082G>A (p.Arg361His)	AMACR, C1QTNF3-AMACR (R361H)	Single nucleotide variant (non-coding transcript variant +2 more)	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 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 3344868	NM_014324.6(AMACR):c.1057A>T (p.Ile353Leu)	C1QTNF3-AMACR, AMACR (I353L)	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related disorder	GUncertain significance
Select item 905564	NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys)	AMACR, C1QTNF3-AMACR (E351K)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1045362	NM_014324.6(AMACR):c.1045C>G (p.His349Asp)	AMACR, C1QTNF3-AMACR (H349D)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1379901	NM_014324.6(AMACR):c.1040dup (p.Glu348fs)	AMACR, C1QTNF3-AMACR (E348fs)	Duplication (non-coding transcript variant +2 more)	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 (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1609004	NM_014324.6(AMACR):c.1032T>G (p.Pro344=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 594324	NM_014324.6(AMACR):c.1032T>A (p.Pro344=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1937380	NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)	AMACR, C1QTNF3-AMACR (D343Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
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 2217157	NM_014324.6(AMACR):c.1025G>C (p.Arg342Thr)	AMACR, C1QTNF3-AMACR (R342T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1636456	NM_014324.6(AMACR):c.1017T>C (p.Ser339=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 501944	NM_014324.6(AMACR):c.1011C>T (p.Ile337=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 905565	NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile)	AMACR, C1QTNF3-AMACR (T334I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
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 1408258	NM_014324.6(AMACR):c.994T>G (p.Leu332Val)	AMACR, C1QTNF3-AMACR (L332V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 3050787	NM_014324.6(AMACR):c.993G>A (p.Leu331=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	AMACR-related disorder	GLikely benign
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	GLikely benign
Select item 2682883	NM_014324.6(AMACR):c.983C>T (p.Ala328Val)	AMACR, C1QTNF3-AMACR (A328V)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1663851	NM_014324.6(AMACR):c.978C>G (p.Arg326=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 1485160	NM_014324.6(AMACR):c.976dup (p.Arg326fs)	AMACR, C1QTNF3-AMACR (R326fs)	Duplication (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1511158	NM_014324.6(AMACR):c.976C>T (p.Arg326Cys)	AMACR, C1QTNF3-AMACR (R326C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1582904	NM_014324.6(AMACR):c.975C>T (p.Pro325=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GLikely benign
Select item 1945553	NM_014324.6(AMACR):c.967G>T (p.Val323Leu)	AMACR, C1QTNF3-AMACR (V323L)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1919648	NM_014324.6(AMACR):c.967G>A (p.Val323Met)	AMACR, C1QTNF3-AMACR (V323M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 388636	NM_014324.6(AMACR):c.966C>T (p.Asp322=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GLikely benign
Select item 1427040	NM_014324.6(AMACR):c.965A>T (p.Asp322Val)	AMACR, C1QTNF3-AMACR (D322V)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance

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