"GeneDx"[submitter] AND "AMACR"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 382384	NM_014324.6(AMACR):c.837G>A (p.Thr279=)	C1QTNF3-AMACR, AMACR	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 128360	NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	AMACR, C1QTNF3-AMACR +1 more (E277K)	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +4 more	GBenign
Select item 235412	NM_014324.6(AMACR):c.782T>C (p.Met261Thr)	AMACR, C1QTNF3-AMACR (M261T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 1253831	NM_014324.6(AMACR):c.739+242G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518058	NM_014324.6(AMACR):c.739+16G>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 128359	NM_014324.6(AMACR):c.717G>T (p.Gln239His)	AMACR, C1QTNF3-AMACR (Q239H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 353254	NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)	AMACR, C1QTNF3-AMACR (P238S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +2 more	GBenign
Select item 128358	NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)	AMACR, C1QTNF3-AMACR (L201S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GBenign
Select item 597405	NM_014324.6(AMACR):c.566C>A (p.Ala189Glu)	AMACR, C1QTNF3-AMACR (A189E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 384891	NM_014324.6(AMACR):c.553-4A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1233178	NM_014324.6(AMACR):c.553-147C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321716	NM_014324.6(AMACR):c.552+77AGA[2]	AMACR, C1QTNF3-AMACR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 128357	NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	AMACR, C1QTNF3-AMACR (G175D)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1308710	NM_014324.6(AMACR):c.518G>A (p.Arg173His)	AMACR, C1QTNF3-AMACR (R173H)	Single nucleotide variant (missense variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 507809	NM_014324.6(AMACR):c.438G>A (p.Pro146=)	AMACR, C1QTNF3-AMACR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1247433	NM_014324.6(AMACR):c.392-52T>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221410	NM_014324.6(AMACR):c.391+299T>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326425	NM_014324.6(AMACR):c.391+51C>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 353255	NM_014324.6(AMACR):c.353G>A (p.Arg118Gln)	AMACR, C1QTNF3-AMACR (R118Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1342049	NM_014324.6(AMACR):c.248-60A>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326423	NM_014324.6(AMACR):c.248-92G>C	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275069	NM_014324.6(AMACR):c.248-199C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259415	NM_014324.6(AMACR):c.247+219C>T	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268751	NM_014324.6(AMACR):c.247+169T>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381406	NM_014324.6(AMACR):c.247+20G>A	C1QTNF3-AMACR, AMACR	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 387261	NM_014324.6(AMACR):c.247+8C>G	C1QTNF3-AMACR, AMACR	Single nucleotide variant (intron variant)	Alpha-methylacyl-CoA racemase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 5523	NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	AMACR, C1QTNF3-AMACR (S52P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 515101	NM_014324.6(AMACR):c.136T>C (p.Leu46=)	C1QTNF3-AMACR, AMACR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 128356	NM_014324.6(AMACR):c.25G>A (p.Val9Met)	AMACR, C1QTNF3-AMACR (V9M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 384898	NM_014324.6(AMACR):c.-22C>G	AMACR, C1QTNF3-AMACR	Single nucleotide variant (5 prime UTR variant)	Alpha-methylacyl-CoA racemase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1230984	NC_000005.10:g.34008109_34008128del	AMACR, C1QTNF3-AMACR	Deletion	not provided	GBenign
Select item 1296470	NC_000005.10:g.34008171C>A	AMACR, C1QTNF3-AMACR	Single nucleotide variant	not provided	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43