ClinVar for Gene (Select 399687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162168	NM_078471.4(MYO18A):c.982C>T (p.Arg328Cys)	MYO18A (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162154	NM_078471.4(MYO18A):c.964C>T (p.Arg322Trp)	MYO18A (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162143	NM_078471.4(MYO18A):c.*663T>A	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3162134	NM_078471.4(MYO18A):c.*577T>C	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3162099	NM_078471.4(MYO18A):c.6032A>T (p.Tyr2011Phe)	MYO18A (Y1538F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162090	NM_078471.4(MYO18A):c.5591C>T (p.Ala1864Val)	LOC125177445, MYO18A (A1827V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162060	NM_078471.4(MYO18A):c.5281A>C (p.Lys1761Gln)	MYO18A (K1303Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162053	NM_078471.4(MYO18A):c.5225A>G (p.Asn1742Ser)	MYO18A (N1754S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162048	NM_078471.4(MYO18A):c.5048G>A (p.Arg1683Gln)	MYO18A (R1225Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162045	NM_078471.4(MYO18A):c.4943T>G (p.Phe1648Cys)	MYO18A (F1648C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162041	NM_078471.4(MYO18A):c.4901G>A (p.Gly1634Asp)	MYO18A (G1176D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162034	NM_078471.4(MYO18A):c.4342G>A (p.Gly1448Ser)	MYO18A (G1448S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162028	NM_078471.4(MYO18A):c.423C>A (p.Phe141Leu)	MYO18A (F141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162004	NM_078471.4(MYO18A):c.3940G>A (p.Ala1314Thr)	MYO18A (A1326T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161982	NM_078471.4(MYO18A):c.*605C>T	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3161968	NM_078471.4(MYO18A):c.3517C>T (p.Arg1173Trp)	MYO18A (R1173W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161963	NM_078471.4(MYO18A):c.3400A>G (p.Lys1134Glu)	MYO18A (K1146E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161953	NM_078471.4(MYO18A):c.326A>G (p.Glu109Gly)	MYO18A (E109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161931	NM_078471.4(MYO18A):c.3175C>T (p.Arg1059Cys)	MYO18A (R601C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161923	NM_078471.4(MYO18A):c.3004G>A (p.Ala1002Thr)	MYO18A (A1002T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161919	NM_078471.4(MYO18A):c.3002G>A (p.Arg1001Gln)	MYO18A (R1001Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161912	NM_078471.4(MYO18A):c.2975A>T (p.Glu992Val)	MYO18A (E1011V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161908	NM_078471.4(MYO18A):c.2965G>T (p.Ala989Ser)	MYO18A (A1001S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161904	NM_078471.4(MYO18A):c.2941G>A (p.Ala981Thr)	MYO18A (A981T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161899	NM_078471.4(MYO18A):c.2930G>A (p.Arg977His)	MYO18A (R519H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161883	NM_078471.4(MYO18A):c.2698C>T (p.Arg900Cys)	MYO18A (R900C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161860	NM_078471.4(MYO18A):c.2267C>T (p.Ala756Val)	MYO18A (A756V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161832	NM_078471.4(MYO18A):c.*766T>G	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3161804	NM_078471.4(MYO18A):c.*742G>A	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3161798	NM_078471.4(MYO18A):c.1690T>A (p.Phe564Ile)	MYO18A (F564I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161791	NM_078471.4(MYO18A):c.1567G>A (p.Gly523Arg)	MYO18A (G523R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161763	NM_078471.4(MYO18A):c.1342C>T (p.Arg448Cys)	MYO18A (R460C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161745	NM_078471.4(MYO18A):c.*683C>T	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3161741	NM_078471.4(MYO18A):c.1136G>A (p.Arg379His)	MYO18A (R379H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067215	NM_078471.4(MYO18A):c.1759C>T (p.Arg587Trp)	MYO18A (R129W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3064055	NM_078471.4(MYO18A):c.448G>A (p.Ala150Thr)	MYO18A (A150T)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	Gnot provided
Select item 3047824	NM_078471.4(MYO18A):c.6134_6135del (p.Thr2045fs)	MYO18A (T1572fs +5 more)	Microsatellite (frameshift variant)	MYO18A-related disorder	GLikely benign
Select item 3046335	NM_078471.4(MYO18A):c.5207G>A (p.Arg1736His)	MYO18A (R1278H +4 more)	Single nucleotide variant (missense variant)	MYO18A-related disorder	GLikely benign
Select item 3040314	NM_078471.4(MYO18A):c.970G>A (p.Gly324Ser)	MYO18A (G324S)	Single nucleotide variant (missense variant)	MYO18A-related disorder	GLikely benign
Select item 3032007	NM_078471.4(MYO18A):c.39C>T (p.Gly13=)	MYO18A	Single nucleotide variant (synonymous variant)	MYO18A-related disorder	GLikely benign
Select item 2647608	NM_078471.4(MYO18A):c.3939C>T (p.Asp1313=)	MYO18A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647607	NM_078471.4(MYO18A):c.5754G>T (p.Leu1918=)	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 2629676	NM_078471.4(MYO18A):c.5410G>T (p.Val1804Leu)	MYO18A (V1346L +4 more)	Single nucleotide variant (missense variant)	MYO18A-related disorder	GUncertain significance
Select item 2623882	NM_078471.4(MYO18A):c.3122T>C (p.Leu1041Pro)	MYO18A (L1053P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618009	NM_078471.4(MYO18A):c.3026T>A (p.Phe1009Tyr)	MYO18A (F1009Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617236	NM_078471.4(MYO18A):c.5929G>A (p.Glu1977Lys)	MYO18A (E1962K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608592	NM_078471.4(MYO18A):c.947T>C (p.Leu316Pro)	MYO18A (L316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608121	NM_078471.4(MYO18A):c.1273T>A (p.Leu425Met)	MYO18A (L437M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607667	NM_078471.4(MYO18A):c.*712T>G	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2606577	NM_078471.4(MYO18A):c.4054C>T (p.Leu1352Phe)	MYO18A (L1364F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599058	NM_078471.4(MYO18A):c.4061G>A (p.Arg1354Gln)	MYO18A (R1354Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597880	NM_078471.4(MYO18A):c.175C>T (p.Arg59Cys)	MYO18A (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2570107	NM_078471.4(MYO18A):c.1186G>A (p.Val396Ile)	MYO18A (V408I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561320	NM_078471.4(MYO18A):c.5641C>T (p.Arg1881Trp)	LOC125177445, MYO18A (R1844W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558616	NM_078471.4(MYO18A):c.3561A>C (p.Gln1187His)	MYO18A (Q1206H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555271	NM_078471.4(MYO18A):c.656G>A (p.Arg219Gln)	MYO18A (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551334	NM_078471.4(MYO18A):c.*671G>A	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2544161	NM_078471.4(MYO18A):c.5675G>A (p.Arg1892Lys)	LOC125177445, MYO18A (R1434K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538985	NM_078471.4(MYO18A):c.2890G>C (p.Asp964His)	MYO18A (D506H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538256	NM_078471.4(MYO18A):c.5590G>A (p.Ala1864Thr)	LOC125177445, MYO18A (A1406T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537537	NM_078471.4(MYO18A):c.3800G>A (p.Arg1267Gln)	MYO18A (R1267Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536757	NM_078471.4(MYO18A):c.5315A>G (p.Asp1772Gly)	MYO18A (D1314G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536424	NM_078471.4(MYO18A):c.973G>A (p.Glu325Lys)	MYO18A (E325K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527428	NM_078471.4(MYO18A):c.*643C>T	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2520249	NM_078471.4(MYO18A):c.6101G>A (p.Arg2034Gln)	MYO18A (R1982Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513551	NM_078471.4(MYO18A):c.3265G>A (p.Val1089Met)	MYO18A (V631M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2495452	NM_078471.4(MYO18A):c.3191G>A (p.Arg1064His)	MYO18A (R1064H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490691	NM_078471.4(MYO18A):c.2231C>T (p.Pro744Leu)	MYO18A (P744L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490086	NM_078471.4(MYO18A):c.6063T>A (p.Asp2021Glu)	MYO18A (D2006E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489592	NM_078471.4(MYO18A):c.1216C>T (p.Arg406Cys)	MYO18A (R406C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485257	NM_078471.4(MYO18A):c.250G>A (p.Asp84Asn)	MYO18A (D84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478693	NM_078471.4(MYO18A):c.5665G>A (p.Glu1889Lys)	LOC125177445, MYO18A (E1901K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478068	NM_078471.4(MYO18A):c.5330A>G (p.Asn1777Ser)	MYO18A (N1319S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478067	NM_078471.4(MYO18A):c.173C>T (p.Thr58Met)	MYO18A (T58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471826	NM_078471.4(MYO18A):c.3922G>A (p.Ala1308Thr)	MYO18A (A1308T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458866	NM_078471.4(MYO18A):c.5570A>T (p.Glu1857Val)	LOC125177445, MYO18A (E1869V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455674	NM_078471.4(MYO18A):c.755G>A (p.Arg252His)	MYO18A (R252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454894	NM_078471.4(MYO18A):c.4427G>A (p.Arg1476Gln)	MYO18A (R1018Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2409587	NM_078471.4(MYO18A):c.3223C>A (p.Pro1075Thr)	MYO18A (P1075T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408105	NM_078471.4(MYO18A):c.5398C>G (p.Leu1800Val)	MYO18A (L1800V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405972	NM_078471.4(MYO18A):c.2536G>A (p.Asp846Asn)	MYO18A (D388N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399923	NM_078471.4(MYO18A):c.4114C>T (p.Arg1372Trp)	MYO18A (R1372W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398078	NM_078471.4(MYO18A):c.3815A>C (p.Lys1272Thr)	MYO18A (K1284T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398005	NM_078471.4(MYO18A):c.4060C>T (p.Arg1354Trp)	MYO18A (R1373W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396056	NM_078471.4(MYO18A):c.1466G>A (p.Arg489His)	MYO18A (R31H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389438	NM_078471.4(MYO18A):c.4051C>T (p.Arg1351Cys)	MYO18A (R1351C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379907	NM_078471.4(MYO18A):c.2902A>G (p.Lys968Glu)	MYO18A (K510E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376964	NM_078471.4(MYO18A):c.5341G>A (p.Ala1781Thr)	MYO18A (A1793T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375308	NM_078471.4(MYO18A):c.4963C>T (p.Arg1655Trp)	MYO18A (R1197W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370304	NM_078471.4(MYO18A):c.3424G>T (p.Val1142Leu)	MYO18A (V1142L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366313	NM_078471.4(MYO18A):c.2173C>T (p.Arg725Cys)	MYO18A (R737C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366215	NM_078471.4(MYO18A):c.5042G>A (p.Ser1681Asn)	MYO18A (S1700N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363629	NM_078471.4(MYO18A):c.1789G>A (p.Val597Ile)	MYO18A (V597I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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