CMYA5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 791626	NM_153610.5(CMYA5):c.103G>A (p.Glu35Lys)	CMYA5 (E35K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377659	NM_153610.5(CMYA5):c.152T>C (p.Leu51Ser)	CMYA5 (L51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778322	NM_153610.5(CMYA5):c.159C>A (p.Asp53Glu)	CMYA5 (D53E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2533794	NM_153610.5(CMYA5):c.206C>T (p.Pro69Leu)	CMYA5 (P69L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655557	NM_153610.5(CMYA5):c.252C>G (p.Thr84=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377227	NM_153610.5(CMYA5):c.278C>G (p.Ser93Cys)	CMYA5 (S93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716935	NM_153610.5(CMYA5):c.313G>C (p.Gly105Arg)	CMYA5 (G105R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714298	NM_153610.5(CMYA5):c.315T>C (p.Gly105=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2354118	NM_153610.5(CMYA5):c.326G>A (p.Arg109Gln)	CMYA5 (R109Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299458	NM_153610.5(CMYA5):c.361G>C (p.Val121Leu)	CMYA5 (V121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291941	NM_153610.5(CMYA5):c.365C>T (p.Ser122Phe)	CMYA5 (S122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225534	NM_153610.5(CMYA5):c.385A>G (p.Lys129Glu)	CMYA5 (K129E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220917	NM_153610.5(CMYA5):c.407A>T (p.His136Leu)	CMYA5 (H136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539094	NM_153610.5(CMYA5):c.412T>C (p.Ser138Pro)	CMYA5 (S138P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236879	NM_153610.5(CMYA5):c.418C>G (p.His140Asp)	CMYA5 (H140D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785129	NM_153610.5(CMYA5):c.440G>A (p.Arg147Gln)	CMYA5 (R147Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313585	NM_153610.5(CMYA5):c.450C>A (p.Asn150Lys)	CMYA5 (N150K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590178	NM_153610.5(CMYA5):c.505C>G (p.Pro169Ala)	CMYA5 (P169A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733687	NM_153610.5(CMYA5):c.525G>T (p.Gln175His)	CMYA5 (Q175H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313982	NM_153610.5(CMYA5):c.556A>G (p.Thr186Ala)	CMYA5 (T186A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270962	NM_153610.5(CMYA5):c.665T>C (p.Ile222Thr)	CMYA5 (I222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785801	NM_153610.5(CMYA5):c.702G>A (p.Ser234=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2396439	NM_153610.5(CMYA5):c.809A>G (p.Glu270Gly)	CMYA5 (E270G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726744	NM_153610.5(CMYA5):c.853C>T (p.Arg285Cys)	CMYA5 (R285C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2604009	NM_153610.5(CMYA5):c.898T>C (p.Phe300Leu)	CMYA5 (F300L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778323	NM_153610.5(CMYA5):c.915C>T (p.Gly305=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2367099	NM_153610.5(CMYA5):c.916G>A (p.Ala306Thr)	CMYA5 (A306T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237262	NM_153610.5(CMYA5):c.951G>A (p.Met317Ile)	CMYA5 (M317I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596451	NM_153610.5(CMYA5):c.975A>T (p.Lys325Asn)	CMYA5 (K325N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778334	NM_153610.5(CMYA5):c.1004C>T (p.Thr335Ile)	CMYA5 (T335I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 749262	NM_153610.5(CMYA5):c.1027C>T (p.Pro343Ser)	CMYA5 (P343S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720576	NM_153610.5(CMYA5):c.1101A>G (p.Pro367=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787035	NM_153610.5(CMYA5):c.1212A>G (p.Gly404=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2275971	NM_153610.5(CMYA5):c.1336T>C (p.Ser446Pro)	CMYA5 (S446P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225075	NM_153610.5(CMYA5):c.1343A>G (p.Gln448Arg)	CMYA5 (Q448R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256253	NM_153610.5(CMYA5):c.1388T>C (p.Ile463Thr)	CMYA5 (I463T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787288	NM_153610.5(CMYA5):c.1411G>A (p.Ala471Thr)	CMYA5 (A471T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2568816	NM_153610.5(CMYA5):c.1420A>G (p.Thr474Ala)	CMYA5 (T474A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025235	NM_153610.5(CMYA5):c.1446A>C (p.Gly482=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365182	NM_153610.5(CMYA5):c.1558G>C (p.Glu520Gln)	CMYA5 (E520Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655558	NM_153610.5(CMYA5):c.1629C>T (p.Ser543=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355947	NM_153610.5(CMYA5):c.1652T>A (p.Met551Lys)	CMYA5 (M551K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335269	NM_153610.5(CMYA5):c.1697T>C (p.Leu566Ser)	CMYA5 (L566S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 722667	NM_153610.5(CMYA5):c.1751A>C (p.Glu584Ala)	CMYA5 (E584A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604581	NM_153610.5(CMYA5):c.1759T>C (p.Ser587Pro)	CMYA5 (S587P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375239	NM_153610.5(CMYA5):c.1807G>A (p.Asp603Asn)	CMYA5 (D603N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746642	NM_153610.5(CMYA5):c.1822T>C (p.Leu608=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2492122	NM_153610.5(CMYA5):c.1955C>G (p.Ser652Cys)	CMYA5 (S652C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250035	NM_153610.5(CMYA5):c.2061T>G (p.Ser687Arg)	CMYA5 (S687R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742092	NM_153610.5(CMYA5):c.2113C>T (p.Leu705=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308825	NM_153610.5(CMYA5):c.2149C>T (p.Arg717Cys)	CMYA5 (R717C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741325	NM_153610.5(CMYA5):c.2331C>T (p.His777=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483020	NM_153610.5(CMYA5):c.2444T>C (p.Ile815Thr)	CMYA5 (I815T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782701	NM_153610.5(CMYA5):c.2508C>T (p.Asp836=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729997	NM_153610.5(CMYA5):c.2583C>T (p.Thr861=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269595	NM_153610.5(CMYA5):c.2789C>T (p.Ser930Leu)	CMYA5 (S930L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726760	NM_153610.5(CMYA5):c.2791C>T (p.Pro931Ser)	CMYA5 (P931S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2260287	NM_153610.5(CMYA5):c.2794A>G (p.Met932Val)	CMYA5 (M932V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720577	NM_153610.5(CMYA5):c.2876C>T (p.Pro959Leu)	CMYA5 (P959L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2481552	NM_153610.5(CMYA5):c.2905G>C (p.Glu969Gln)	CMYA5 (E969Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228130	NM_153610.5(CMYA5):c.2906A>T (p.Glu969Val)	CMYA5 (E969V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546199	NM_153610.5(CMYA5):c.2956A>G (p.Ile986Val)	CMYA5 (I986V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315749	NM_153610.5(CMYA5):c.3022A>G (p.Ile1008Val)	CMYA5 (I1008V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381032	NM_153610.5(CMYA5):c.3050A>C (p.Glu1017Ala)	CMYA5 (E1017A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487148	NM_153610.5(CMYA5):c.3152C>A (p.Ala1051Asp)	CMYA5 (A1051D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754925	NM_153610.5(CMYA5):c.3189G>A (p.Lys1063=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410773	NM_153610.5(CMYA5):c.3302C>T (p.Thr1101Ile)	CMYA5 (T1101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791262	NM_153610.5(CMYA5):c.3333G>A (p.Gln1111=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2347803	NM_153610.5(CMYA5):c.3335A>G (p.Lys1112Arg)	CMYA5 (K1112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726761	NM_153610.5(CMYA5):c.3437T>C (p.Val1146Ala)	CMYA5 (V1146A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2458851	NM_153610.5(CMYA5):c.3449C>T (p.Pro1150Leu)	CMYA5 (P1150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232167	NM_153610.5(CMYA5):c.3467A>C (p.Gln1156Pro)	CMYA5 (Q1156P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214429	NM_153610.5(CMYA5):c.3647C>T (p.Ala1216Val)	CMYA5 (A1216V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214430	NM_153610.5(CMYA5):c.3649A>C (p.Thr1217Pro)	CMYA5 (T1217P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1057074	NM_153610.5(CMYA5):c.3687G>C (p.Gln1229His)	CMYA5 (Q1229H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515475	NM_153610.5(CMYA5):c.3707C>G (p.Ser1236Cys)	CMYA5 (S1236C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775073	NM_153610.5(CMYA5):c.3739G>A (p.Val1247Ile)	CMYA5 (V1247I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1299459	NM_153610.5(CMYA5):c.3767C>T (p.Pro1256Leu)	CMYA5 (P1256L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2312274	NM_153610.5(CMYA5):c.3859G>A (p.Glu1287Lys)	CMYA5 (E1287K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309596	NM_153610.5(CMYA5):c.3880G>A (p.Glu1294Lys)	CMYA5 (E1294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342060	NM_153610.5(CMYA5):c.4079A>G (p.Lys1360Arg)	CMYA5 (K1360R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341213	NM_153610.5(CMYA5):c.4189G>A (p.Gly1397Arg)	CMYA5 (G1397R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533200	NM_153610.5(CMYA5):c.4271C>T (p.Ala1424Val)	CMYA5 (A1424V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726762	NM_153610.5(CMYA5):c.4412G>A (p.Gly1471Glu)	CMYA5 (G1471E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719674	NM_153610.5(CMYA5):c.4599A>G (p.Leu1533=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472754	NM_153610.5(CMYA5):c.4600T>A (p.Trp1534Arg)	CMYA5 (W1534R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516279	NM_153610.5(CMYA5):c.4663A>G (p.Lys1555Glu)	CMYA5 (K1555E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239971	NM_153610.5(CMYA5):c.4787T>C (p.Val1596Ala)	CMYA5 (V1596A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655559	NM_153610.5(CMYA5):c.4894T>C (p.Leu1632=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407876	NM_153610.5(CMYA5):c.4913G>A (p.Gly1638Glu)	CMYA5 (G1638E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770544	NM_153610.5(CMYA5):c.4943A>G (p.Gln1648Arg)	CMYA5 (Q1648R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2396980	NM_153610.5(CMYA5):c.4956A>G (p.Ile1652Met)	CMYA5 (I1652M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391388	NM_153610.5(CMYA5):c.5069C>T (p.Ala1690Val)	CMYA5 (A1690V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 720578	NM_153610.5(CMYA5):c.5087C>G (p.Ala1696Gly)	CMYA5 (A1696G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726763	NM_153610.5(CMYA5):c.5165G>A (p.Ser1722Asn)	CMYA5 (S1722N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719904	NM_153610.5(CMYA5):c.5174C>T (p.Ser1725Leu)	CMYA5 (S1725L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 786406	NM_153610.5(CMYA5):c.5175G>T (p.Ser1725=)	CMYA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304855	NM_153610.5(CMYA5):c.5191T>C (p.Ser1731Pro)	CMYA5 (S1731P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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