MYEF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2062181	NM_016132.5(MYEF2):c.*8032A>G	SLC24A5, MYEF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 817885	NM_205850.3(SLC24A5):c.493del (p.Ser165fs)	SLC24A5, MYEF2 (S165fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2431038	NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)	MYEF2, SLC24A5 (S165*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 1975559	NM_205850.3(SLC24A5):c.497C>T (p.Thr166Ile)	MYEF2, SLC24A5 (T166I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869242	NM_205850.3(SLC24A5):c.498A>C (p.Thr166=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1400776	NM_205850.3(SLC24A5):c.502T>A (p.Ser168Thr)	MYEF2, SLC24A5 (S168T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1393352	NM_205850.3(SLC24A5):c.503C>T (p.Ser168Leu)	MYEF2, SLC24A5 (S168L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 627611	NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter)	MYEF2, SLC24A5 (S168*)	Single nucleotide variant (nonsense +1 more)	Skin/hair/eye pigmentation, variation in, 4	GPathogenic
Select item 1920528	NM_205850.3(SLC24A5):c.505T>C (p.Cys169Arg)	MYEF2, SLC24A5 (C169R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2168791	NM_205850.3(SLC24A5):c.513C>T (p.Pro171=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1939262	NM_205850.3(SLC24A5):c.522_532del (p.Arg174fs)	MYEF2, SLC24A5 (R174fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 440484	NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys)	MYEF2, SLC24A5 (R174K)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 436742	NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter)	MYEF2, SLC24A5 (C176*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 2189341	NM_205850.3(SLC24A5):c.533C>T (p.Ala178Val)	MYEF2, SLC24A5 (A178V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1661294	NM_205850.3(SLC24A5):c.534G>C (p.Ala178=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 284318	NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	SLC24A5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2988393	NM_205850.3(SLC24A5):c.537C>T (p.Tyr179=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175020	NM_205850.3(SLC24A5):c.544A>G (p.Ser182Gly)	MYEF2, SLC24A5 (S182G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372809	NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg)	MYEF2, SLC24A5 (S182R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3005538	NM_205850.3(SLC24A5):c.558T>C (p.Val186=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1978637	NM_205850.3(SLC24A5):c.560T>C (p.Leu187Pro)	MYEF2, SLC24A5 (L187P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3163569	NM_205850.3(SLC24A5):c.562G>C (p.Gly188Arg)	MYEF2, SLC24A5 (G188R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1929456	NM_205850.3(SLC24A5):c.568_572del (p.Ile189_Ile190insTer)	MYEF2, SLC24A5	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 60558	NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs)	MYEF2, SLC24A5 (Y191fs)	Insertion (frameshift variant +1 more)	Skin/hair/eye pigmentation, variation in, 4	Gassociation
Select item 1395574	NM_205850.3(SLC24A5):c.583G>A (p.Val195Ile)	MYEF2, SLC24A5 (V195I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1508577	NM_016132.5(MYEF2):c.*7920T>C	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1938710	NM_016132.5(MYEF2):c.*6238A>C	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1515737	NM_205850.3(SLC24A5):c.591-1G>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 60559	NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter)	MYEF2, SLC24A5 (W197*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 1593691	NM_205850.3(SLC24A5):c.594T>C (p.Tyr198=)	SLC24A5, MYEF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559374	NM_205850.3(SLC24A5):c.600G>A (p.Gly200=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1403699	NM_205850.3(SLC24A5):c.601G>A (p.Ala201Thr)	SLC24A5, MYEF2 (A201T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954653	NM_205850.3(SLC24A5):c.602C>T (p.Ala201Val)	MYEF2, SLC24A5 (A201V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072811	NM_205850.3(SLC24A5):c.617T>C (p.Ile206Thr)	MYEF2, SLC24A5 (I206T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2155808	NM_205850.3(SLC24A5):c.627G>A (p.Leu209=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1936815	NM_205850.3(SLC24A5):c.629A>T (p.Tyr210Phe)	SLC24A5, MYEF2 (Y210F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 440483	NM_205850.3(SLC24A5):c.641del (p.Leu214fs)	SLC24A5, MYEF2 (L214fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2874290	NM_205850.3(SLC24A5):c.651C>T (p.Asp217=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722650	NM_205850.3(SLC24A5):c.663C>A (p.Asn221Lys)	MYEF2, SLC24A5 (N221K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2240006	NM_205850.3(SLC24A5):c.666A>C (p.Gln222His)	MYEF2, SLC24A5 (Q222H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2139076	NM_205850.3(SLC24A5):c.681A>G (p.Lys227=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137652	NM_205850.3(SLC24A5):c.696C>T (p.Cys232=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906748	NM_205850.3(SLC24A5):c.697G>A (p.Ala233Thr)	MYEF2, SLC24A5 (A233T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2789294	NM_205850.3(SLC24A5):c.721A>C (p.Arg241=)	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1912988	NM_205850.3(SLC24A5):c.737C>T (p.Pro246Leu)	MYEF2, SLC24A5 (P246L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1498927	NM_205850.3(SLC24A5):c.754G>A (p.Asp252Asn)	MYEF2, SLC24A5 (D252N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109656	NM_205850.3(SLC24A5):c.759A>C (p.Glu253Asp)	MYEF2, SLC24A5 (E253D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927928	NM_205850.3(SLC24A5):c.769T>C (p.Phe257Leu)	SLC24A5, MYEF2 (F257L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1541763	NM_205850.3(SLC24A5):c.775C>T (p.Arg259Cys)	MYEF2, SLC24A5 (R259C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3163570	NM_205850.3(SLC24A5):c.776G>A (p.Arg259His)	MYEF2, SLC24A5 (R259H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1621520	NM_205850.3(SLC24A5):c.777T>A (p.Arg259=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017115	NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter)	MYEF2, SLC24A5 (Q261*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2177230	NM_205850.3(SLC24A5):c.795T>C (p.Asp265=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1546922	NM_205850.3(SLC24A5):c.829C>G (p.Gln277Glu)	MYEF2, SLC24A5 (Q277E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1439854	NM_205850.3(SLC24A5):c.838A>G (p.Ile280Val)	MYEF2, SLC24A5 (I280V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1995283	NM_205850.3(SLC24A5):c.848A>G (p.His283Arg)	MYEF2, SLC24A5 (H283R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951485	NM_205850.3(SLC24A5):c.871+2T>C	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1987521	NM_016132.5(MYEF2):c.*5929A>C	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1950266	NM_016132.5(MYEF2):c.*5926G>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1442144	NM_016132.5(MYEF2):c.*3942G>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2041317	NM_205850.3(SLC24A5):c.881G>C (p.Ser294Thr)	MYEF2, SLC24A5 (S294T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088918	NM_205850.3(SLC24A5):c.895C>G (p.Pro299Ala)	MYEF2, SLC24A5 (P299A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2184192	NM_205850.3(SLC24A5):c.914G>T (p.Arg305Ile)	MYEF2, SLC24A5 (R305I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727005	NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly)	MYEF2, SLC24A5 (W308G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 744273	NM_205850.3(SLC24A5):c.932C>A (p.Ser311Tyr)	MYEF2, SLC24A5 (S311Y)	Single nucleotide variant (missense variant +1 more)	SLC24A5-related disorder +1 more	GLikely benign
Select item 2419351	NM_205850.3(SLC24A5):c.933C>T (p.Ser311=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2171049	NM_205850.3(SLC24A5):c.941T>C (p.Ile314Thr)	MYEF2, SLC24A5 (I314T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796282	NM_205850.3(SLC24A5):c.948_952del (p.Leu317fs)	MYEF2, SLC24A5 (L317fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2137898	NM_205850.3(SLC24A5):c.947C>T (p.Thr316Ile)	MYEF2, SLC24A5 (T316I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310860	NM_205850.3(SLC24A5):c.967C>T (p.Pro323Ser)	MYEF2, SLC24A5 (P323S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1424466	NM_205850.3(SLC24A5):c.988T>C (p.Trp330Arg)	MYEF2, SLC24A5 (W330R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 985686	NM_205850.3(SLC24A5):c.989G>A (p.Trp330Ter)	MYEF2, SLC24A5 (W330*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1925208	NM_205850.3(SLC24A5):c.991A>G (p.Lys331Glu)	MYEF2, SLC24A5 (K331E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1452966	NM_205850.3(SLC24A5):c.1009del (p.Thr337fs)	MYEF2, SLC24A5 (T337fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1501874	NM_205850.3(SLC24A5):c.1022C>T (p.Ser341Phe)	MYEF2, SLC24A5 (S341F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336364	NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val)	MYEF2, SLC24A5 (A342V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1900751	NM_205850.3(SLC24A5):c.1038C>T (p.Ser346=)	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2049477	NM_205850.3(SLC24A5):c.1039G>A (p.Ala347Thr)	MYEF2, SLC24A5 (A347T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175914	NM_205850.3(SLC24A5):c.1048T>C (p.Tyr350His)	SLC24A5, MYEF2 (Y350H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951724	NM_205850.3(SLC24A5):c.1057G>T (p.Val353Phe)	MYEF2, SLC24A5 (V353F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2042190	NM_205850.3(SLC24A5):c.1058T>A (p.Val353Asp)	MYEF2, SLC24A5 (V353D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363921	NM_205850.3(SLC24A5):c.1066G>C (p.Val356Leu)	MYEF2, SLC24A5 (V356L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2129668	NM_205850.3(SLC24A5):c.1068C>T (p.Val356=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 667388	NM_205850.3(SLC24A5):c.1078+1G>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1924058	NM_016132.5(MYEF2):c.*3719C>T	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2006484	NM_016132.5(MYEF2):c.*1812T>G	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 263272	NM_016132.5(MYEF2):c.*1799T>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2809481	NM_205850.3(SLC24A5):c.1086A>G (p.Thr362=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2057226	NM_205850.3(SLC24A5):c.1094T>C (p.Ile365Thr)	MYEF2, SLC24A5 (I365T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152233	NM_205850.3(SLC24A5):c.1096C>A (p.Pro366Thr)	MYEF2, SLC24A5 (P366T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2321856	NM_205850.3(SLC24A5):c.1097C>T (p.Pro366Leu)	MYEF2, SLC24A5 (P366L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2076171	NM_205850.3(SLC24A5):c.1098C>T (p.Pro366=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2046462	NM_205850.3(SLC24A5):c.1098C>G (p.Pro366=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196969	NM_205850.3(SLC24A5):c.1099G>A (p.Asp367Asn)	MYEF2, SLC24A5 (D367N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1534739	NM_205850.3(SLC24A5):c.1101T>C (p.Asp367=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1312028	NM_205850.3(SLC24A5):c.1103C>T (p.Thr368Ile)	MYEF2, SLC24A5 (T368I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097142	NM_205850.3(SLC24A5):c.1127CAG[1] (p.Ala377del)	MYEF2, SLC24A5 (A377del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 872707	NM_205850.3(SLC24A5):c.1151C>T (p.Thr384Ile)	MYEF2, SLC24A5 (T384I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1946706	NM_205850.3(SLC24A5):c.1154T>C (p.Ile385Thr)	MYEF2, SLC24A5 (I385T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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