"Ambry Genetics"[submitter] AND "LOC100533997"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205580	NM_021048.5(MAGEA10):c.1085C>T (p.Thr362Ile)	LOC100533997, MAGEA10 (T362I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272785	NM_021048.5(MAGEA10):c.997G>T (p.Ala333Ser)	LOC100533997, MAGEA10 (A333S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463476	NM_021048.5(MAGEA10):c.866G>C (p.Ser289Thr)	LOC100533997, MAGEA10 (S289T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301030	NM_021048.5(MAGEA10):c.818A>G (p.Gln273Arg)	MAGEA10, LOC100533997 (Q273R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491330	NM_021048.5(MAGEA10):c.772G>A (p.Gly258Arg)	LOC100533997, MAGEA10 (G258R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347113	NM_021048.5(MAGEA10):c.709G>C (p.Glu237Gln)	LOC100533997, MAGEA10 (E237Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288229	NM_021048.5(MAGEA10):c.689T>C (p.Ile230Thr)	LOC100533997, MAGEA10 (I230T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599368	NM_021048.5(MAGEA10):c.506A>G (p.Glu169Gly)	MAGEA10, LOC100533997 (E169G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339822	NM_021048.5(MAGEA10):c.464T>C (p.Ile155Thr)	LOC100533997, MAGEA10 (I155T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2460568	NM_021048.5(MAGEA10):c.401T>C (p.Ile134Thr)	LOC100533997, MAGEA10 (I134T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2363899	NM_021048.5(MAGEA10):c.350C>A (p.Pro117Gln)	MAGEA10, LOC100533997 (P117Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536298	NM_021048.5(MAGEA10):c.335A>G (p.Gln112Arg)	LOC100533997, MAGEA10 (Q112R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602054	NM_021048.5(MAGEA10):c.289G>A (p.Val97Ile)	LOC100533997, MAGEA10 (V97I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2294021	NM_021048.5(MAGEA10):c.284C>T (p.Ser95Leu)	MAGEA10, LOC100533997 (S95L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613259	NM_021048.5(MAGEA10):c.113C>T (p.Ala38Val)	LOC100533997, MAGEA10 (A38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357099	NM_021048.5(MAGEA10):c.76G>A (p.Glu26Lys)	MAGEA10, LOC100533997 (E26K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456665	NM_021048.5(MAGEA10):c.71G>A (p.Gly24Asp)	LOC100533997, MAGEA10 (G24D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404094	NM_021048.5(MAGEA10):c.19C>T (p.Arg7Cys)	LOC100533997, MAGEA10 (R7C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance