"Ambry Genetics"[submitter] AND "UXS1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2403252	NM_001253875.2(UXS1):c.1268G>A (p.Arg423His)	UXS1 (R364H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259314	NM_001253875.2(UXS1):c.1255A>C (p.Lys419Gln)	UXS1 (K306Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2253997	NM_001253875.2(UXS1):c.1004C>G (p.Thr335Arg)	UXS1 (T222R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337270	NM_001253875.2(UXS1):c.952A>G (p.Met318Val)	UXS1 (M205V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331820	NM_001253875.2(UXS1):c.940C>T (p.Leu314Phe)	UXS1 (L254F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237531	NM_001253875.2(UXS1):c.925G>A (p.Asp309Asn)	UXS1 (D136N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466260	NM_001253875.2(UXS1):c.809G>A (p.Arg270His)	UXS1 (R265H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353567	NM_001253875.2(UXS1):c.762A>C (p.Glu254Asp)	UXS1 (E141D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331818	NM_001253875.2(UXS1):c.709G>A (p.Asp237Asn)	UXS1 (D64N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253345	NM_001253875.2(UXS1):c.697C>T (p.Arg233Trp)	UXS1 (R173W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591286	NM_001253875.2(UXS1):c.607C>G (p.Leu203Val)	UXS1 (L143V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239150	NM_001253875.2(UXS1):c.602G>A (p.Arg201His)	UXS1 (R28H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212283	NM_001253875.2(UXS1):c.601C>T (p.Arg201Cys)	UXS1 (R28C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616721	NM_001253875.2(UXS1):c.550A>G (p.Asn184Asp)	UXS1 (N124D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486119	NM_001253875.2(UXS1):c.400G>A (p.Val134Met)	UXS1 (V129M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188110	NM_001253875.2(UXS1):c.350G>A (p.Gly117Asp)	UXS1 (G4D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495641	NM_001253875.2(UXS1):c.184G>C (p.Glu62Gln)	UXS1 (E57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257704	NM_001253875.2(UXS1):c.151A>G (p.Asn51Asp)	UXS1 (N51D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188108	NM_001253875.2(UXS1):c.148G>A (p.Glu50Lys)	UXS1 (E45K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622825	NM_001253875.2(UXS1):c.138G>C (p.Arg46Ser)	UXS1 (R46S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331817	NM_001253875.2(UXS1):c.102G>C (p.Trp34Cys)	UXS1 (W34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236818	NM_001253875.2(UXS1):c.35C>T (p.Ala12Val)	LOC129934515, UXS1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188109	NM_001253875.2(UXS1):c.28G>C (p.Val10Leu)	LOC129934515, UXS1 (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331819	NM_001253875.2(UXS1):c.22C>A (p.Arg8Ser)	LOC129934515, UXS1 (R8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619393	NM_001253875.2(UXS1):c.5T>C (p.Val2Ala)	LOC129934515, UXS1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25