"Ambry Genetics"[submitter] AND "C1QTNF3-AMACR"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1400581	NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys)	C1QTNF3-AMACR, AMACR (E362K)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
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 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 1919648	NM_014324.6(AMACR):c.967G>A (p.Val323Met)	AMACR, C1QTNF3-AMACR (V323M)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1521203	NM_014324.6(AMACR):c.865G>A (p.Gly289Ser)	AMACR, C1QTNF3-AMACR (G289S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1401327	NM_014324.6(AMACR):c.848G>C (p.Trp283Ser)	AMACR, C1QTNF3-AMACR (W283S)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 1397951	NM_014324.6(AMACR):c.806A>T (p.Lys269Met)	AMACR, C1QTNF3-AMACR (K269M)	Single nucleotide variant (non-coding transcript variant +2 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 3114586	NM_014324.6(AMACR):c.724G>A (p.Glu242Lys)	C1QTNF3-AMACR, AMACR (E242K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493707	NM_014324.6(AMACR):c.704C>T (p.Ala235Val)	AMACR, C1QTNF3-AMACR (A235V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1498527	NM_014324.6(AMACR):c.635T>C (p.Met212Thr)	AMACR, C1QTNF3-AMACR (M212T)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1945335	NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)	AMACR, C1QTNF3-AMACR (E157D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +1 more	GUncertain significance
Select item 595424	NM_014324.6(AMACR):c.625G>C (p.Gly209Arg)	AMACR, C1QTNF3-AMACR (G209R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1693894	NM_014324.6(AMACR):c.563C>T (p.Thr188Ile)	AMACR, C1QTNF3-AMACR (T188I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2526282	NM_014324.6(AMACR):c.520A>G (p.Thr174Ala)	AMACR, C1QTNF3-AMACR (T174A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622615	NM_014324.6(AMACR):c.518G>T (p.Arg173Leu)	AMACR, C1QTNF3-AMACR (R173L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +2 more	GUncertain significance
Select item 502170	NM_014324.6(AMACR):c.410G>A (p.Gly137Asp)	AMACR, C1QTNF3-AMACR (G137D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1407045	NM_014324.6(AMACR):c.317G>A (p.Arg106Lys)	AMACR, C1QTNF3-AMACR (R106K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 502796	NM_014324.6(AMACR):c.290G>C (p.Arg97Pro)	AMACR, C1QTNF3-AMACR (R97P)	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +2 more	GUncertain significance
Select item 3114569	NM_014324.6(AMACR):c.230T>A (p.Leu77Gln)	AMACR, C1QTNF3-AMACR (L77Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5523	NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	AMACR, C1QTNF3-AMACR (S52P)	Single nucleotide variant (missense variant)	AMACR-related condition +3 more	GPathogenic/Likely pathogenic
Select item 903705	NM_014324.6(AMACR):c.100G>C (p.Val34Leu)	AMACR, C1QTNF3-AMACR (V34L)	Single nucleotide variant (missense variant)	AMACR-related condition +2 more	GUncertain significance
Select item 2461574	NM_181435.6(C1QTNF3):c.943C>G (p.Leu315Val)	C1QTNF3, C1QTNF3-AMACR (L315V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135785	NM_181435.6(C1QTNF3):c.916C>T (p.Arg306Cys)	C1QTNF3, C1QTNF3-AMACR (R306C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135784	NM_181435.6(C1QTNF3):c.763C>T (p.Leu255Phe)	C1QTNF3, C1QTNF3-AMACR (L182F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135783	NM_181435.6(C1QTNF3):c.652G>C (p.Gly218Arg)	C1QTNF3, C1QTNF3-AMACR (G145R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2246106	NM_181435.6(C1QTNF3):c.649A>T (p.Ile217Phe)	C1QTNF3, C1QTNF3-AMACR (I217F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2599946	NM_181435.6(C1QTNF3):c.612G>T (p.Gln204His)	C1QTNF3, C1QTNF3-AMACR (Q131H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135782	NM_181435.6(C1QTNF3):c.395C>T (p.Pro132Leu)	C1QTNF3, C1QTNF3-AMACR (P59L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305967	NM_181435.6(C1QTNF3):c.338G>A (p.Ser113Asn)	C1QTNF3, C1QTNF3-AMACR (S113N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135781	NM_181435.6(C1QTNF3):c.241C>T (p.Pro81Ser)	C1QTNF3, C1QTNF3-AMACR (P81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268785	NM_181435.6(C1QTNF3):c.193A>C (p.Thr65Pro)	C1QTNF3, C1QTNF3-AMACR (T65P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135780	NM_181435.6(C1QTNF3):c.187C>T (p.Pro63Ser)	C1QTNF3, C1QTNF3-AMACR (P63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592490	NM_181435.6(C1QTNF3):c.151G>A (p.Gly51Ser)	C1QTNF3, C1QTNF3-AMACR (G51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322179	NM_181435.6(C1QTNF3):c.146G>A (p.Arg49His)	C1QTNF3, C1QTNF3-AMACR (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36