ClinVar for Gene (Select 399687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356815	NM_078471.4(MYO18A):c.983G>A (p.Arg328His)	MYO18A (R328H)	Single nucleotide variant (missense variant)	MYO18A-related disorder	GUncertain significance
Select item 3350774	NM_078471.4(MYO18A):c.3228G>A (p.Ser1076=)	MYO18A	Single nucleotide variant (synonymous variant)	MYO18A-related disorder	GLikely benign
Select item 3297740	NM_078471.4(MYO18A):c.79C>G (p.Arg27Gly)	MYO18A (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297739	NM_078471.4(MYO18A):c.4420G>A (p.Ala1474Thr)	MYO18A (A1016T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297737	NM_078471.4(MYO18A):c.5435T>C (p.Val1812Ala)	MYO18A (V1812A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297736	NM_078471.4(MYO18A):c.*893A>G	MYO18A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3297735	NM_078471.4(MYO18A):c.541G>C (p.Gly181Arg)	MYO18A (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297734	NM_078471.4(MYO18A):c.117G>A (p.Met39Ile)	MYO18A (M39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297733	NM_078471.4(MYO18A):c.3624C>G (p.Phe1208Leu)	MYO18A (F1220L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297732	NM_078471.4(MYO18A):c.1571A>G (p.Asn524Ser)	MYO18A (N536S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297731	NM_078471.4(MYO18A):c.5312G>A (p.Arg1771Gln)	MYO18A (R1313Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297730	NM_078471.4(MYO18A):c.1531C>G (p.Leu511Val)	MYO18A (L511V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297729	NM_078471.4(MYO18A):c.6070C>T (p.His2024Tyr)	MYO18A (H1551Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297728	NM_078471.4(MYO18A):c.2024C>T (p.Ala675Val)	MYO18A (A687V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297725	NM_078471.4(MYO18A):c.157A>G (p.Lys53Glu)	MYO18A (K53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297724	NM_078471.4(MYO18A):c.1007C>T (p.Thr336Ile)	MYO18A (T336I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297723	NM_078471.4(MYO18A):c.1424A>G (p.Tyr475Cys)	MYO18A (Y17C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297722	NM_078471.4(MYO18A):c.2281A>G (p.Ser761Gly)	MYO18A (S780G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297721	NM_078471.4(MYO18A):c.2984C>T (p.Ser995Leu)	MYO18A (S1014L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297720	NM_078471.4(MYO18A):c.2476C>T (p.Arg826Cys)	MYO18A (R838C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297719	NM_078471.4(MYO18A):c.2603G>A (p.Arg868His)	MYO18A (R880H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297718	NM_078471.4(MYO18A):c.2654A>T (p.Glu885Val)	MYO18A (E427V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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

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