ClinVar for Gene (Select 50804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243886	NC_000015.9:g.(?_48413242)_(49097846_?)del	CEP152, CTXN2 +5 more	Deletion	not provided	GPathogenic
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 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 3155576	NM_016132.5(MYEF2):c.57C>G (p.His19Gln)	LOC130057016, MYEF2 (H19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155550	NM_016132.5(MYEF2):c.149A>G (p.Asn50Ser)	LOC130057016, MYEF2 (N50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155542	NM_016132.5(MYEF2):c.1436G>A (p.Arg479Gln)	MYEF2 (R455Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155537	NM_016132.5(MYEF2):c.1412G>C (p.Gly471Ala)	MYEF2 (G447A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155526	NM_016132.5(MYEF2):c.1300A>G (p.Arg434Gly)	MYEF2 (R434G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155525	NM_016132.5(MYEF2):c.1165A>C (p.Met389Leu)	MYEF2 (M389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155520	NM_016132.5(MYEF2):c.104C>A (p.Pro35His)	LOC130057016, MYEF2 (P35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3010721	NM_205850.3(SLC24A5):c.1365A>T (p.Ala455=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2960696	NM_016132.5(MYEF2):c.*898C>T	SLC24A5, MYEF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2900924	NM_205850.3(SLC24A5):c.1434T>C (p.Leu478=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899618	NM_205850.3(SLC24A5):c.1161T>C (p.Ser387=)	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 2796282	NM_205850.3(SLC24A5):c.948_952del (p.Leu317fs)	MYEF2, SLC24A5 (L317fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
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 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 2685512	GRCh37/hg19 15q21.1(chr15:48376697-48589845)x1	CTXN2, MYEF2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2623852	NM_016132.5(MYEF2):c.812A>G (p.Lys271Arg)	MYEF2 (K271R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594095	NM_016132.5(MYEF2):c.28C>T (p.Pro10Ser)	LOC130057016, MYEF2 (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591232	NM_205850.3(SLC24A5):c.1213G>A (p.Gly405Arg)	MYEF2, SLC24A5 (G405R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578734	NM_205850.3(SLC24A5):c.1455T>A (p.Tyr485Ter)	MYEF2, SLC24A5 (Y485*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2539270	NM_016132.5(MYEF2):c.22G>A (p.Glu8Lys)	LOC130057016, MYEF2 (E8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537631	NM_016132.5(MYEF2):c.73C>A (p.Pro25Thr)	LOC130057016, MYEF2 (P25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537144	NM_016132.5(MYEF2):c.1354A>G (p.Met452Val)	MYEF2 (M452V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522577	NM_016132.5(MYEF2):c.1008G>C (p.Met336Ile)	MYEF2 (M336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522521	NM_016132.5(MYEF2):c.1528A>G (p.Met510Val)	MYEF2 (M486V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480636	NM_016132.5(MYEF2):c.604G>A (p.Gly202Arg)	MYEF2 (G202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475521	NM_016132.5(MYEF2):c.176C>T (p.Ser59Leu)	MYEF2 (S59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2418303	NM_205850.3(SLC24A5):c.1407_1411del (p.Ile469fs)	MYEF2, SLC24A5 (I469fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2415899	NM_205850.3(SLC24A5):c.1404A>G (p.Gly468=)	MYEF2, SLC24A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2408529	NM_016132.5(MYEF2):c.685G>A (p.Gly229Ser)	MYEF2 (G229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397880	NM_205850.3(SLC24A5):c.1318T>A (p.Tyr440Asn)	MYEF2, SLC24A5 (Y440N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368544	NM_016132.5(MYEF2):c.765A>G (p.Ile255Met)	MYEF2 (I255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353171	NM_016132.5(MYEF2):c.1480A>G (p.Ile494Val)	MYEF2 (I470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333809	NM_016132.5(MYEF2):c.1445C>T (p.Ser482Phe)	MYEF2 (S458F +1 more)	Single nucleotide variant (missense variant)	not specified	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 2313329	NM_016132.5(MYEF2):c.832G>A (p.Val278Ile)	MYEF2 (V278I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303170	NM_016132.5(MYEF2):c.1349C>T (p.Ser450Phe)	MYEF2 (S450F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253979	NM_016132.5(MYEF2):c.1736G>A (p.Cys579Tyr)	MYEF2 (C579Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248762	NM_016132.5(MYEF2):c.1610A>C (p.Gln537Pro)	MYEF2 (Q513P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242251	NM_016132.5(MYEF2):c.689G>C (p.Arg230Thr)	MYEF2 (R230T)	Single nucleotide variant (missense variant +1 more)	not specified	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 2214557	NM_016132.5(MYEF2):c.106G>C (p.Ala36Pro)	LOC130057016, MYEF2 (A36P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207418	NM_016132.5(MYEF2):c.910C>T (p.His304Tyr)	MYEF2 (H304Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2201680	NM_205850.3(SLC24A5):c.1463G>C (p.Gly488Ala)	MYEF2, SLC24A5 (G488A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2199841	NM_205850.3(SLC24A5):c.1165T>C (p.Leu389=)	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 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 2188917	NM_205850.3(SLC24A5):c.1325C>A (p.Thr442Asn)	SLC24A5, MYEF2 (T442N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2188916	NM_205850.3(SLC24A5):c.1294G>A (p.Glu432Lys)	SLC24A5, MYEF2 (E432K)	Single nucleotide variant (missense 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 2181814	NM_205850.3(SLC24A5):c.1329C>G (p.Ile443Met)	MYEF2, SLC24A5 (I443M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 2119564	NM_205850.3(SLC24A5):c.1309G>A (p.Gly437Arg)	MYEF2, SLC24A5 (G437R)	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 2102295	NM_205850.3(SLC24A5):c.1331C>G (p.Ser444Cys)	MYEF2, SLC24A5 (S444C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 2080274	NM_205850.3(SLC24A5):c.1318_1319del (p.Tyr440fs)	MYEF2, SLC24A5 (Y440fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 2062089	NM_205850.3(SLC24A5):c.1503A>G (p.Ter501Trp)	MYEF2, SLC24A5	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
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 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 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 2045568	NM_205850.3(SLC24A5):c.1181G>A (p.Gly394Glu)	MYEF2, SLC24A5 (G394E)	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 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 2040584	NM_205850.3(SLC24A5):c.1489G>A (p.Gly497Ser)	MYEF2, SLC24A5 (G497S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2034523	NM_016132.5(MYEF2):c.*1685A>G	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2020986	NM_205850.3(SLC24A5):c.1443A>G (p.Leu481=)	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 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 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 1990286	NM_205850.3(SLC24A5):c.1169T>C (p.Val390Ala)	MYEF2, SLC24A5 (V390A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1988910	NM_205850.3(SLC24A5):c.1171G>T (p.Ala391Ser)	MYEF2, SLC24A5 (A391S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987888	NM_205850.3(SLC24A5):c.1402G>T (p.Gly468Ter)	MYEF2, SLC24A5 (G468*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 1978637	NM_205850.3(SLC24A5):c.560T>C (p.Leu187Pro)	MYEF2, SLC24A5 (L187P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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