ClinVar for Gene (Select 25878) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152715	NM_015419.4(MXRA5):c.8234C>T (p.Thr2745Ile)	MXRA5 (T2745I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152709	NM_015419.4(MXRA5):c.8215C>T (p.Pro2739Ser)	MXRA5 (P2739S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152705	NM_015419.4(MXRA5):c.7921A>G (p.Lys2641Glu)	MXRA5 (K2641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152689	NM_015419.4(MXRA5):c.7747G>T (p.Asp2583Tyr)	MXRA5 (D2583Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152683	NM_015419.4(MXRA5):c.76G>C (p.Ala26Pro)	MXRA5 (A26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152670	NM_015419.4(MXRA5):c.7040C>T (p.Thr2347Ile)	MXRA5 (T2347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152665	NM_015419.4(MXRA5):c.6983A>G (p.Asn2328Ser)	MXRA5 (N2328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152645	NM_015419.4(MXRA5):c.6715G>T (p.Val2239Leu)	MXRA5 (V2239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152641	NM_015419.4(MXRA5):c.6698T>A (p.Val2233Glu)	MXRA5 (V2233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152638	NM_015419.4(MXRA5):c.6659T>C (p.Leu2220Pro)	MXRA5 (L2220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152635	NM_015419.4(MXRA5):c.6571C>T (p.Leu2191Phe)	MXRA5 (L2191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152626	NM_015419.4(MXRA5):c.6359A>G (p.Tyr2120Cys)	MXRA5 (Y2120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152589	NM_015419.4(MXRA5):c.6098C>A (p.Ala2033Glu)	MXRA5 (A2033E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152568	NM_015419.4(MXRA5):c.5735C>G (p.Thr1912Ser)	MXRA5 (T1912S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152551	NM_015419.4(MXRA5):c.5593G>A (p.Val1865Ile)	MXRA5 (V1865I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152533	NM_015419.4(MXRA5):c.5377C>A (p.Pro1793Thr)	MXRA5 (P1793T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152527	NM_015419.4(MXRA5):c.5356G>A (p.Ala1786Thr)	MXRA5 (A1786T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152524	NM_015419.4(MXRA5):c.533A>T (p.Asp178Val)	MXRA5 (D178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152514	NM_015419.4(MXRA5):c.4939G>C (p.Glu1647Gln)	MXRA5 (E1647Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152502	NM_015419.4(MXRA5):c.487C>T (p.Leu163Phe)	MXRA5 (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152492	NM_015419.4(MXRA5):c.4831A>G (p.Lys1611Glu)	MXRA5 (K1611E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152481	NM_015419.4(MXRA5):c.4752G>C (p.Arg1584Ser)	MXRA5 (R1584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152470	NM_015419.4(MXRA5):c.4600G>T (p.Val1534Leu)	MXRA5 (V1534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152468	NM_015419.4(MXRA5):c.4570G>T (p.Asp1524Tyr)	MXRA5 (D1524Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152463	NM_015419.4(MXRA5):c.4553T>C (p.Ile1518Thr)	MXRA5 (I1518T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152457	NM_015419.4(MXRA5):c.4523C>G (p.Thr1508Ser)	MXRA5 (T1508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152453	NM_015419.4(MXRA5):c.4471C>T (p.Pro1491Ser)	MXRA5 (P1491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152450	NM_015419.4(MXRA5):c.4460G>A (p.Arg1487Gln)	MXRA5 (R1487Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152438	NM_015419.4(MXRA5):c.4186C>T (p.Pro1396Ser)	MXRA5 (P1396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152434	NM_015419.4(MXRA5):c.4176G>T (p.Gln1392His)	MXRA5 (Q1392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152431	NM_015419.4(MXRA5):c.4162C>A (p.Pro1388Thr)	MXRA5 (P1388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152424	NM_015419.4(MXRA5):c.4084A>G (p.Met1362Val)	MXRA5 (M1362V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152399	NM_015419.4(MXRA5):c.3476C>T (p.Pro1159Leu)	MXRA5 (P1159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152390	NM_015419.4(MXRA5):c.3472C>T (p.Arg1158Cys)	MXRA5 (R1158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152386	NM_015419.4(MXRA5):c.3457G>T (p.Gly1153Trp)	MXRA5 (G1153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152375	NM_015419.4(MXRA5):c.3443G>A (p.Arg1148Gln)	MXRA5 (R1148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152370	NM_015419.4(MXRA5):c.3380C>T (p.Thr1127Ile)	MXRA5 (T1127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152360	NM_015419.4(MXRA5):c.3320C>T (p.Ser1107Phe)	MXRA5 (S1107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152333	NM_015419.4(MXRA5):c.3098A>G (p.His1033Arg)	MXRA5 (H1033R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152331	NM_015419.4(MXRA5):c.3067A>C (p.Ile1023Leu)	MXRA5 (I1023L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152328	NM_015419.4(MXRA5):c.2971G>T (p.Asp991Tyr)	MXRA5 (D991Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152325	NM_015419.4(MXRA5):c.2968G>A (p.Glu990Lys)	MXRA5 (E990K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152317	NM_015419.4(MXRA5):c.269A>G (p.Glu90Gly)	MXRA5 (E90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152310	NM_015419.4(MXRA5):c.2670C>A (p.Asp890Glu)	MXRA5 (D890E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152280	NM_015419.4(MXRA5):c.2372G>T (p.Arg791Leu)	MXRA5 (R791L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152275	NM_015419.4(MXRA5):c.2345G>A (p.Arg782His)	MXRA5 (R782H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152268	NM_015419.4(MXRA5):c.2094T>A (p.Asp698Glu)	MXRA5 (D698E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152247	NM_015419.4(MXRA5):c.1400A>G (p.Asp467Gly)	MXRA5 (D467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152222	NM_015419.4(MXRA5):c.103G>T (p.Val35Phe)	MXRA5 (V35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148934	GRCh37/hg19 Xp22.33-22.32(chrX:1919821-4613977)x0	ARSD, ARSD-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3148849	GRCh37/hg19 Xp22.33-22.32(chrX:168552-5388161)x1	ARSD, ARSD-AS1 +7 more	Copy number loss	not provided	GPathogenic
Select item 3062543	GRCh37/hg19 Xp22.33-22.32(chrX:1734397-4958582)	ARSD, ARSD-AS1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3054624	NM_015419.4(MXRA5):c.2190C>T (p.Ala730=)	MXRA5	Single nucleotide variant (synonymous variant)	MXRA5-related disorder	GLikely benign
Select item 3024671	NM_015419.4(MXRA5):c.3473G>A (p.Arg1158His)	MXRA5 (R1158H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684965	GRCh37/hg19 Xp22.33(chrX:3156776-3699396)x3	MXRA5, PRKX	Copy number gain	not provided	GUncertain significance
Select item 2684959	GRCh37/hg19 Xp22.33(chrX:1818053-3699423)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684958	GRCh37/hg19 Xp22.33-22.32(chrX:1734398-4958582)x3	ARSD, ARSD-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2672144	NM_015419.4(MXRA5):c.7835G>C (p.Gly2612Ala)	MXRA5 (G2612A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659891	NM_015419.4(MXRA5):c.17A>G (p.His6Arg)	MXRA5 (H6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659890	NM_015419.4(MXRA5):c.748G>A (p.Gly250Ser)	MXRA5 (G250S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659889	NM_015419.4(MXRA5):c.808C>G (p.Leu270Val)	MXRA5 (L270V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659888	NM_015419.4(MXRA5):c.915G>A (p.Gln305=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659887	NM_015419.4(MXRA5):c.931T>A (p.Phe311Ile)	MXRA5 (F311I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659886	NM_015419.4(MXRA5):c.936A>G (p.Gln312=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659885	NM_015419.4(MXRA5):c.2560G>A (p.Val854Ile)	MXRA5 (V854I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659884	NM_015419.4(MXRA5):c.2853G>A (p.Ser951=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659883	NM_015419.4(MXRA5):c.4261G>A (p.Glu1421Lys)	MXRA5 (E1421K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659882	NM_015419.4(MXRA5):c.4314T>C (p.Gly1438=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659881	NM_015419.4(MXRA5):c.4479C>T (p.Ser1493=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659880	NM_015419.4(MXRA5):c.5938C>T (p.Pro1980Ser)	MXRA5 (P1980S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659879	NM_015419.4(MXRA5):c.6276G>T (p.Ser2092=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659878	NM_015419.4(MXRA5):c.6579-7dup	MXRA5	Duplication (intron variant)	not provided	GLikely benign
Select item 2659877	NM_015419.4(MXRA5):c.6804C>T (p.Thr2268=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659876	NM_015419.4(MXRA5):c.7668G>A (p.Ala2556=)	MXRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659875	NM_015419.4(MXRA5):c.8024A>G (p.Asn2675Ser)	MXRA5 (N2675S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622572	NM_015419.4(MXRA5):c.2381A>G (p.Asn794Ser)	MXRA5 (N794S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621069	NM_015419.4(MXRA5):c.4865C>T (p.Pro1622Leu)	MXRA5 (P1622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616492	NM_015419.4(MXRA5):c.1010A>G (p.Lys337Arg)	MXRA5 (K337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612894	NM_015419.4(MXRA5):c.3568A>G (p.Ile1190Val)	MXRA5 (I1190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605843	NM_015419.4(MXRA5):c.3755C>T (p.Ala1252Val)	MXRA5 (A1252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605214	NM_015419.4(MXRA5):c.3229C>G (p.Pro1077Ala)	MXRA5 (P1077A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601912	NM_015419.4(MXRA5):c.7151C>A (p.Thr2384Asn)	MXRA5 (T2384N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600693	NM_015419.4(MXRA5):c.7739A>G (p.Asn2580Ser)	MXRA5 (N2580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595067	NM_015419.4(MXRA5):c.6307C>T (p.Pro2103Ser)	MXRA5 (P2103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591087	NM_015419.4(MXRA5):c.6754G>A (p.Asp2252Asn)	MXRA5 (D2252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589646	NM_015419.4(MXRA5):c.7843C>T (p.Arg2615Cys)	MXRA5 (R2615C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2588113	NM_015419.4(MXRA5):c.7849G>A (p.Val2617Met)	MXRA5 (V2617M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558849	NM_015419.4(MXRA5):c.4441C>T (p.His1481Tyr)	MXRA5 (H1481Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557672	NM_015419.4(MXRA5):c.3637C>T (p.Pro1213Ser)	MXRA5 (P1213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555786	NM_015419.4(MXRA5):c.3394C>G (p.Pro1132Ala)	MXRA5 (P1132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555344	NM_015419.4(MXRA5):c.2677G>A (p.Glu893Lys)	MXRA5 (E893K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552826	NM_015419.4(MXRA5):c.7764G>T (p.Gln2588His)	MXRA5 (Q2588H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550342	NM_015419.4(MXRA5):c.6311A>G (p.Asn2104Ser)	MXRA5 (N2104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549245	NM_015419.4(MXRA5):c.5777A>G (p.Tyr1926Cys)	MXRA5 (Y1926C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549167	NM_015419.4(MXRA5):c.4066C>T (p.Arg1356Cys)	MXRA5 (R1356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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