"Ambry Genetics"[submitter] AND "MXRA8"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2516805	NM_032348.4(MXRA8):c.1318A>G (p.Asn440Asp)	MXRA8 (N440D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152781	NM_032348.4(MXRA8):c.1307T>C (p.Phe436Ser)	MXRA8 (F436S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297142	NM_032348.4(MXRA8):c.1291G>T (p.Asp431Tyr)	MXRA8 (D422Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152778	NM_032348.4(MXRA8):c.1269C>A (p.Ser423Arg)	MXRA8 (S423R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297140	NM_032348.4(MXRA8):c.1223A>T (p.Asp408Val)	MXRA8 (D399V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152773	NM_032348.4(MXRA8):c.1219C>A (p.Leu407Ile)	MXRA8 (L306I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297139	NM_032348.4(MXRA8):c.1217A>G (p.Gln406Arg)	MXRA8 (Q305R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354919	NM_032348.4(MXRA8):c.1163C>T (p.Ala388Val)	MXRA8 (A388V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346333	NM_032348.4(MXRA8):c.1144G>A (p.Gly382Arg)	MXRA8 (G373R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517884	NM_032348.4(MXRA8):c.1021C>A (p.Gln341Lys)	MXRA8 (Q332K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297141	NM_032348.4(MXRA8):c.1002C>G (p.Ser334Arg)	MXRA8 (S325R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535561	NM_032348.4(MXRA8):c.974A>G (p.Asn325Ser)	MXRA8 (N224S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152837	NM_032348.4(MXRA8):c.965G>T (p.Arg322Leu)	MXRA8 (R313L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297138	NM_032348.4(MXRA8):c.955A>T (p.Thr319Ser)	MXRA8 (T310S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222343	NM_032348.4(MXRA8):c.940C>G (p.Pro314Ala)	MXRA8 (P213A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320719	NM_032348.4(MXRA8):c.919G>C (p.Gly307Arg)	MXRA8 (G206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624348	NM_032348.4(MXRA8):c.710T>C (p.Leu237Pro)	MXRA8 (L237P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390392	NM_032348.4(MXRA8):c.673C>T (p.Leu225Phe)	MXRA8 (L225F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328474	NM_032348.4(MXRA8):c.533G>C (p.Arg178Pro)	MXRA8 (R178P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255152	NM_032348.4(MXRA8):c.515A>T (p.Glu172Val)	MXRA8 (E172V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387992	NM_032348.4(MXRA8):c.511A>G (p.Lys171Glu)	MXRA8 (K162E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375972	NM_032348.4(MXRA8):c.505G>T (p.Gly169Cys)	MXRA8 (G169C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222624	NM_032348.4(MXRA8):c.460C>A (p.Leu154Met)	MXRA8 (L53M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152811	NM_032348.4(MXRA8):c.451G>A (p.Ala151Thr)	MXRA8 (A50T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396376	NM_032348.4(MXRA8):c.407C>G (p.Thr136Ser)	MXRA8 (T127S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152808	NM_032348.4(MXRA8):c.394G>A (p.Ala132Thr)	MXRA8 (A31T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394472	NM_032348.4(MXRA8):c.274T>A (p.Tyr92Asn)	MXRA8 (Y83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494714	NM_032348.4(MXRA8):c.256C>T (p.Arg86Trp)	MXRA8 (R86W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152800	NM_032348.4(MXRA8):c.235G>C (p.Gly79Arg)	MXRA8 (G70R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294808	NM_032348.4(MXRA8):c.170C>G (p.Pro57Arg)	MXRA8 (P48R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152792	NM_032348.4(MXRA8):c.149C>T (p.Ala50Val)	MXRA8 (A50V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381432	NM_032348.4(MXRA8):c.148G>T (p.Ala50Ser)	MXRA8 (A41S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205570	NM_032348.4(MXRA8):c.122C>T (p.Ala41Val)	MXRA8 (A41V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152835	NM_032348.4(MXRA8):c.83T>A (p.Val28Glu)	MXRA8 (V28E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329488	NM_032348.4(MXRA8):c.64C>G (p.Leu22Val)	MXRA8 (L22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297137	NM_032348.4(MXRA8):c.62T>C (p.Leu21Pro)	MXRA8 (L21P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344524	NM_032348.4(MXRA8):c.5C>T (p.Ala2Val)	MXRA8 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 37