MYO18A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590265	t(13;17)(q12.2;q11.2)	FLT3, MYO18A	Translocation	Atypical chronic myeloid leukemia, BCR-ABL1 negative	GLikely pathogenic
Select item 154383	GRCh38/hg38 17q11.2(chr17:28757283-29216419)x3	DHRS13, ERAL1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 151507	GRCh38/hg38 17q11.2(chr17:29065798-29095677)x3	LOC125177445, MYO18A	Copy number gain	See cases	GLikely benign
Select item 768864	NM_078471.4(MYO18A):c.*727G>A	MYO18A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2607667	NM_078471.4(MYO18A):c.*712T>G	MYO18A	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 785565	NM_078471.4(MYO18A):c.*708A>G	MYO18A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2551334	NM_078471.4(MYO18A):c.*671G>A	MYO18A	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2527428	NM_078471.4(MYO18A):c.*643C>T	MYO18A	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 3047824	NM_078471.4(MYO18A):c.6134_6135del (p.Thr2045fs)	MYO18A (T1572fs +5 more)	Microsatellite (frameshift variant)	MYO18A-related condition	GLikely benign
Select item 2501804	NM_078471.4(MYO18A):c.6129_6130del (p.Ser2043fs)	MYO18A (S1570fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2520249	NM_078471.4(MYO18A):c.6101G>A (p.Arg2034Gln)	MYO18A (R1982Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326938	NM_078471.4(MYO18A):c.6098C>T (p.Pro2033Leu)	MYO18A (P2033L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777154	NM_078471.4(MYO18A):c.6081C>T (p.Leu2027=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647606	NM_078471.4(MYO18A):c.6073G>A (p.Asp2025Asn)	MYO18A (D1552N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490086	NM_078471.4(MYO18A):c.6063T>A (p.Asp2021Glu)	MYO18A (D2006E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219980	NM_078471.4(MYO18A):c.6055C>T (p.Arg2019Trp)	MYO18A (R1967W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617236	NM_078471.4(MYO18A):c.5929G>A (p.Glu1977Lys)	MYO18A (E1962K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739030	NM_078471.4(MYO18A):c.5802T>C (p.Ala1934=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2351051	NM_078471.4(MYO18A):c.5780A>G (p.Lys1927Arg)	MYO18A (K1939R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647607	NM_078471.4(MYO18A):c.5754G>T (p.Leu1918=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769914	NM_078471.4(MYO18A):c.5706C>T (p.His1902=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733892	NM_078471.4(MYO18A):c.5691G>A (p.Ala1897=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768865	NM_078471.4(MYO18A):c.5685C>T (p.Ala1895=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2544161	NM_078471.4(MYO18A):c.5675G>A (p.Arg1892Lys)	LOC125177445, MYO18A (R1434K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478693	NM_078471.4(MYO18A):c.5665G>A (p.Glu1889Lys)	MYO18A, LOC125177445 (E1901K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561320	NM_078471.4(MYO18A):c.5641C>T (p.Arg1881Trp)	LOC125177445, MYO18A (R1844W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538256	NM_078471.4(MYO18A):c.5590G>A (p.Ala1864Thr)	LOC125177445, MYO18A (A1406T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458866	NM_078471.4(MYO18A):c.5570A>T (p.Glu1857Val)	LOC125177445, MYO18A (E1869V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274399	NM_078471.4(MYO18A):c.5473C>T (p.Arg1825Trp)	MYO18A (R1788W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307249	NM_078471.4(MYO18A):c.5440A>G (p.Lys1814Glu)	MYO18A (K1814E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629676	NM_078471.4(MYO18A):c.5410G>T (p.Val1804Leu)	MYO18A (V1346L +4 more)	Single nucleotide variant (missense variant)	MYO18A-related condition	GUncertain significance
Select item 2408105	NM_078471.4(MYO18A):c.5398C>G (p.Leu1800Val)	MYO18A (L1800V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376964	NM_078471.4(MYO18A):c.5341G>A (p.Ala1781Thr)	MYO18A (A1793T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478068	NM_078471.4(MYO18A):c.5330A>G (p.Asn1777Ser)	MYO18A (N1319S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536757	NM_078471.4(MYO18A):c.5315A>G (p.Asp1772Gly)	MYO18A (D1314G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330449	NM_078471.4(MYO18A):c.5284C>T (p.His1762Tyr)	MYO18A (H1304Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806003	NM_078471.4(MYO18A):c.5240G>A (p.Arg1747Gln)	MYO18A (R1289Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243476	NM_078471.4(MYO18A):c.5216G>A (p.Arg1739His)	MYO18A (R1739H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046335	NM_078471.4(MYO18A):c.5207G>A (p.Arg1736His)	MYO18A (R1278H +4 more)	Single nucleotide variant (missense variant)	MYO18A-related condition	GLikely benign
Select item 808246	NM_078471.4(MYO18A):c.5107G>A (p.Val1703Met)	MYO18A (V1703M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351122	NM_078471.4(MYO18A):c.5099C>T (p.Ala1700Val)	MYO18A (A1242V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366215	NM_078471.4(MYO18A):c.5042G>A (p.Ser1681Asn)	MYO18A (S1700N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375308	NM_078471.4(MYO18A):c.4963C>T (p.Arg1655Trp)	MYO18A (R1197W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808247	NM_078471.4(MYO18A):c.4829A>C (p.Gln1610Pro)	MYO18A (Q1152P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064056	NM_078471.4(MYO18A):c.4778G>A (p.Arg1593Gln)	MYO18A (R1135Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2311565	NM_078471.4(MYO18A):c.4441C>T (p.Arg1481Trp)	MYO18A (R1493W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454894	NM_078471.4(MYO18A):c.4427G>A (p.Arg1476Gln)	MYO18A (R1018Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340920	NM_078471.4(MYO18A):c.4388T>G (p.Phe1463Cys)	MYO18A (F1475C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317317	NM_078471.4(MYO18A):c.4226G>A (p.Arg1409Gln)	MYO18A (R1421Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333695	NM_078471.4(MYO18A):c.4152C>A (p.Phe1384Leu)	MYO18A (F1384L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774930	NM_078471.4(MYO18A):c.4115G>A (p.Arg1372Gln)	MYO18A (R1372Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2399923	NM_078471.4(MYO18A):c.4114C>T (p.Arg1372Trp)	MYO18A (R1372W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599058	NM_078471.4(MYO18A):c.4061G>A (p.Arg1354Gln)	MYO18A (R1354Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398005	NM_078471.4(MYO18A):c.4060C>T (p.Arg1354Trp)	MYO18A (R1373W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606577	NM_078471.4(MYO18A):c.4054C>T (p.Leu1352Phe)	MYO18A (L1364F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389438	NM_078471.4(MYO18A):c.4051C>T (p.Arg1351Cys)	MYO18A (R1351C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228518	NM_078471.4(MYO18A):c.4034T>C (p.Met1345Thr)	MYO18A (M1345T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780420	NM_078471.4(MYO18A):c.4017G>A (p.Gln1339=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774348	NM_078471.4(MYO18A):c.3981G>A (p.Lys1327=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647608	NM_078471.4(MYO18A):c.3939C>T (p.Asp1313=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471826	NM_078471.4(MYO18A):c.3922G>A (p.Ala1308Thr)	MYO18A (A1308T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291480	NM_078471.4(MYO18A):c.3904C>T (p.Arg1302Cys)	MYO18A (R1321C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398078	NM_078471.4(MYO18A):c.3815A>C (p.Lys1272Thr)	MYO18A (K1284T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537537	NM_078471.4(MYO18A):c.3800G>A (p.Arg1267Gln)	MYO18A (R1267Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790718	NM_078471.4(MYO18A):c.3770G>A (p.Arg1257Gln)	MYO18A (R1257Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2237423	NM_078471.4(MYO18A):c.3704C>T (p.Pro1235Leu)	MYO18A (P777L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244584	NM_078471.4(MYO18A):c.3687A>T (p.Lys1229Asn)	MYO18A (K1241N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558616	NM_078471.4(MYO18A):c.3561A>C (p.Gln1187His)	MYO18A (Q1206H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326176	NM_078471.4(MYO18A):c.3546G>T (p.Glu1182Asp)	MYO18A (E1182D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786313	NM_078471.4(MYO18A):c.3535C>T (p.Arg1179Trp)	MYO18A (R1179W +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2370304	NM_078471.4(MYO18A):c.3424G>T (p.Val1142Leu)	MYO18A (V1142L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213174	NM_078471.4(MYO18A):c.3343C>T (p.His1115Tyr)	MYO18A (H1127Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781273	NM_078471.4(MYO18A):c.3331+8C>A	MYO18A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2497725	NM_078471.4(MYO18A):c.3325C>T (p.Arg1109Cys)	MYO18A (R1109C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312995	NM_078471.4(MYO18A):c.3292G>A (p.Gly1098Ser)	MYO18A (G1098S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263997	NM_078471.4(MYO18A):c.3266T>A (p.Val1089Glu)	MYO18A (V1101E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513551	NM_078471.4(MYO18A):c.3265G>A (p.Val1089Met)	MYO18A (V631M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409587	NM_078471.4(MYO18A):c.3223C>A (p.Pro1075Thr)	MYO18A (P1075T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345160	NM_078471.4(MYO18A):c.3194G>A (p.Arg1065Gln)	MYO18A (R607Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495452	NM_078471.4(MYO18A):c.3191G>A (p.Arg1064His)	MYO18A (R1064H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323934	NM_078471.4(MYO18A):c.3190C>T (p.Arg1064Cys)	MYO18A (R606C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250312	NM_078471.4(MYO18A):c.3181G>A (p.Ala1061Thr)	MYO18A (A603T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623882	NM_078471.4(MYO18A):c.3122T>C (p.Leu1041Pro)	MYO18A (L1053P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618009	NM_078471.4(MYO18A):c.3026T>A (p.Phe1009Tyr)	MYO18A (F1009Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299484	NM_078471.4(MYO18A):c.2998C>G (p.Arg1000Gly)	MYO18A (R1019G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 634993	NM_078471.4(MYO18A):c.2932G>A (p.Ala978Thr)	MYO18A (A978T +3 more)	Single nucleotide variant (missense variant)	Hydrops fetalis +2 more	GUncertain significance
Select item 2379907	NM_078471.4(MYO18A):c.2902A>G (p.Lys968Glu)	MYO18A (K510E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538985	NM_078471.4(MYO18A):c.2890G>C (p.Asp964His)	MYO18A (D506H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264985	NM_078471.4(MYO18A):c.2635C>A (p.Leu879Met)	MYO18A (L898M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262178	NM_078471.4(MYO18A):c.2606C>T (p.Ser869Leu)	MYO18A (S869L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224450	NM_078471.4(MYO18A):c.2602C>T (p.Arg868Cys)	MYO18A (R868C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789090	NM_078471.4(MYO18A):c.2538C>T (p.Asp846=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2405972	NM_078471.4(MYO18A):c.2536G>A (p.Asp846Asn)	MYO18A (D388N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252150	NM_078471.4(MYO18A):c.2396G>A (p.Gly799Asp)	MYO18A (G818D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299773	NM_078471.4(MYO18A):c.2272G>A (p.Gly758Ser)	MYO18A (G758S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490691	NM_078471.4(MYO18A):c.2231C>T (p.Pro744Leu)	MYO18A (P744L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366313	NM_078471.4(MYO18A):c.2173C>T (p.Arg725Cys)	MYO18A (R737C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254183	NM_078471.4(MYO18A):c.2144A>G (p.Lys715Arg)	MYO18A (K257R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322436	NM_078471.4(MYO18A):c.2056C>T (p.Arg686Cys)	MYO18A (R228C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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