MYO9B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 2350895	NM_004145.4(MYO9B):c.35G>A (p.Arg12Gln)	MYO9B (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057127	NM_004145.4(MYO9B):c.44C>T (p.Ala15Val)	MYO9B (A15V)	Single nucleotide variant (missense variant)	MYO9B-related condition	GLikely benign
Select item 2607175	NM_004145.4(MYO9B):c.85G>A (p.Glu29Lys)	MYO9B (E29K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781444	NM_004145.4(MYO9B):c.167G>A (p.Arg56Gln)	MYO9B (R56Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3056521	NM_004145.4(MYO9B):c.243C>T (p.Asn81=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2344747	NM_004145.4(MYO9B):c.340G>A (p.Ala114Thr)	MYO9B (A114T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649531	NM_004145.4(MYO9B):c.381G>A (p.Ala127=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244037	NM_004145.4(MYO9B):c.427C>T (p.Arg143Trp)	MYO9B (R143W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456450	NM_004145.4(MYO9B):c.437C>T (p.Ala146Val)	MYO9B (A146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037288	NM_004145.4(MYO9B):c.462C>T (p.Leu154=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GBenign
Select item 2608676	NM_004145.4(MYO9B):c.625G>A (p.Gly209Ser)	MYO9B (G209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782644	NM_004145.4(MYO9B):c.660C>T (p.Asp220=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2259612	NM_004145.4(MYO9B):c.664G>A (p.Ala222Thr)	MYO9B (A222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597891	NM_004145.4(MYO9B):c.691G>A (p.Val231Met)	MYO9B (V231M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649532	NM_004145.4(MYO9B):c.804C>T (p.Val268=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489280	NM_004145.4(MYO9B):c.816C>G (p.Ile272Met)	MYO9B (I272M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208836	NM_004145.4(MYO9B):c.940G>A (p.Val314Ile)	MYO9B (V314I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246080	NM_004145.4(MYO9B):c.1112T>C (p.Ile371Thr)	MYO9B (I371T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464873	NM_004145.4(MYO9B):c.1184C>A (p.Pro395His)	MYO9B (P395H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040764	NM_004145.4(MYO9B):c.1287C>T (p.Val429=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2236625	NM_004145.4(MYO9B):c.1337G>A (p.Arg446Gln)	MYO9B (R446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261511	NM_004145.4(MYO9B):c.1381G>A (p.Val461Ile)	MYO9B (V461I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033338	NM_004145.4(MYO9B):c.1420-4A>G	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related condition	GLikely benign
Select item 2236626	NM_004145.4(MYO9B):c.1486C>T (p.Arg496Trp)	MYO9B (R496W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218512	NM_004145.4(MYO9B):c.1487G>A (p.Arg496Gln)	MYO9B (R496Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543496	NM_004145.4(MYO9B):c.1498G>T (p.Ala500Ser)	MYO9B (A500S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471966	NM_004145.4(MYO9B):c.1739A>G (p.His580Arg)	MYO9B (H580R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053760	NM_004145.4(MYO9B):c.1845T>C (p.His615=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2329219	NM_004145.4(MYO9B):c.1901A>T (p.Gln634Leu)	MYO9B (Q634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049880	NM_004145.4(MYO9B):c.1908C>T (p.Phe636=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GBenign
Select item 2529430	NM_004145.4(MYO9B):c.2044G>A (p.Val682Met)	MYO9B (V682M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649533	NM_004145.4(MYO9B):c.2058C>T (p.Ala686=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533473	NM_004145.4(MYO9B):c.2078G>A (p.Arg693Gln)	MYO9B (R693Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361292	NM_004145.4(MYO9B):c.2107C>T (p.Arg703Cys)	MYO9B (R703C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295900	NM_004145.4(MYO9B):c.2108G>A (p.Arg703His)	MYO9B (R703H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332878	NM_004145.4(MYO9B):c.2119G>A (p.Glu707Lys)	MYO9B (E707K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048969	NM_004145.4(MYO9B):c.2127C>T (p.Ala709=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2552103	NM_004145.4(MYO9B):c.2134G>A (p.Ala712Thr)	MYO9B (A712T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649534	NM_004145.4(MYO9B):c.2136T>C (p.Ala712=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046179	NM_004145.4(MYO9B):c.2141-5G>A	MYO9B	Single nucleotide variant (intron variant)	MYO9B-related condition	GLikely benign
Select item 2377948	NM_004145.4(MYO9B):c.2180T>G (p.Leu727Arg)	MYO9B (L727R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721558	NM_004145.4(MYO9B):c.2205G>A (p.Ser735=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 2211789	NM_004145.4(MYO9B):c.2278C>G (p.Pro760Ala)	MYO9B (P760A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049287	NM_004145.4(MYO9B):c.2292C>G (p.Leu764=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 3051665	NM_004145.4(MYO9B):c.2382G>A (p.Leu794=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2336489	NM_004145.4(MYO9B):c.2457C>G (p.His819Gln)	MYO9B (H819Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056992	NM_004145.4(MYO9B):c.2718G>A (p.Leu906=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GBenign
Select item 3048194	NM_004145.4(MYO9B):c.2751C>T (p.Ile917=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GBenign
Select item 2254690	NM_004145.4(MYO9B):c.2834G>A (p.Arg945Gln)	MYO9B (R945Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401110	NM_004145.4(MYO9B):c.2860C>T (p.Arg954Trp)	MYO9B (R954W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546083	NM_004145.4(MYO9B):c.2942G>A (p.Arg981Gln)	MYO9B (R981Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043424	NM_004145.4(MYO9B):c.2958C>T (p.Ile986=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2221699	NM_004145.4(MYO9B):c.2981G>A (p.Arg994Gln)	MYO9B (R994Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485568	NM_004145.4(MYO9B):c.2993C>T (p.Ala998Val)	MYO9B (A998V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374669	NM_004145.4(MYO9B):c.3053G>A (p.Arg1018Gln)	MYO9B (R1018Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569959	NM_004145.4(MYO9B):c.3064C>T (p.Arg1022Trp)	MYO9B (R1022W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568955	NM_004145.4(MYO9B):c.3065G>A (p.Arg1022Gln)	MYO9B (R1022Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517874	NM_004145.4(MYO9B):c.3107G>A (p.Arg1036Gln)	MYO9B (R1036Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458091	NM_004145.4(MYO9B):c.3146C>T (p.Ser1049Leu)	MYO9B (S1049L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2290828	NM_004145.4(MYO9B):c.3169A>G (p.Lys1057Glu)	MYO9B (K1057E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375036	NM_004145.4(MYO9B):c.3214G>A (p.Gly1072Ser)	MYO9B (G1072S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215897	NM_004145.4(MYO9B):c.3217G>A (p.Gly1073Arg)	MYO9B (G1073R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332145	NM_004145.4(MYO9B):c.3235G>A (p.Gly1079Arg)	MYO9B (G1079R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552318	NM_004145.4(MYO9B):c.3284G>A (p.Gly1095Glu)	MYO9B (G1095E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326140	NM_004145.4(MYO9B):c.3307G>A (p.Val1103Met)	MYO9B (V1103M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210901	NM_004145.4(MYO9B):c.3367C>G (p.Pro1123Ala)	MYO9B (P1123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038330	NM_004145.4(MYO9B):c.3371A>G (p.Glu1124Gly)	MYO9B (E1124G)	Single nucleotide variant (missense variant)	MYO9B-related condition	GBenign
Select item 2379428	NM_004145.4(MYO9B):c.3433C>T (p.Arg1145Trp)	MYO9B (R1145W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049209	NM_004145.4(MYO9B):c.3443G>A (p.Arg1148His)	MYO9B (R1148H)	Single nucleotide variant (missense variant)	MYO9B-related condition	GLikely benign
Select item 2311160	NM_004145.4(MYO9B):c.3452G>A (p.Arg1151His)	MYO9B (R1151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746068	NM_004145.4(MYO9B):c.3513G>A (p.Glu1171=)	MYO9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386283	NM_004145.4(MYO9B):c.3516G>T (p.Glu1172Asp)	MYO9B (E1172D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286594	NM_004145.4(MYO9B):c.3527G>A (p.Arg1176Lys)	MYO9B (R1176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322632	NM_004145.4(MYO9B):c.3638C>T (p.Thr1213Ile)	MYO9B (T1213I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242605	NM_004145.4(MYO9B):c.3651G>C (p.Gln1217His)	MYO9B (Q1217H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351510	NM_004145.4(MYO9B):c.3710C>T (p.Thr1237Met)	MYO9B (T1237M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042077	NM_004145.4(MYO9B):c.3838G>A (p.Gly1280Ser)	MYO9B (G1280S)	Single nucleotide variant (missense variant)	MYO9B-related condition	GBenign
Select item 2385145	NM_004145.4(MYO9B):c.3896G>A (p.Arg1299Gln)	MYO9B (R1299Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366741	NM_004145.4(MYO9B):c.3925G>A (p.Ala1309Thr)	MYO9B (A1309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598580	NM_004145.4(MYO9B):c.4015C>T (p.Arg1339Trp)	MYO9B (R1339W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367230	NM_004145.4(MYO9B):c.4037C>T (p.Thr1346Met)	MYO9B (T1346M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237219	NM_004145.4(MYO9B):c.4047G>C (p.Glu1349Asp)	MYO9B (E1349D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046425	NM_004145.4(MYO9B):c.4077C>T (p.Asp1359=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2361021	NM_004145.4(MYO9B):c.4127C>T (p.Thr1376Ile)	MYO9B (T1376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364887	NM_004145.4(MYO9B):c.4142G>A (p.Arg1381Gln)	MYO9B (R1381Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050030	NM_004145.4(MYO9B):c.4148C>T (p.Ala1383Val)	MYO9B (A1383V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042996	NM_004145.4(MYO9B):c.4217C>T (p.Pro1406Leu)	MYO9B (P1406L)	Single nucleotide variant (missense variant)	MYO9B-related condition	GLikely benign
Select item 1050293	NM_004145.4(MYO9B):c.4300G>A (p.Ala1434Thr)	MYO9B (A1434T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228281	NM_004145.4(MYO9B):c.4308G>T (p.Glu1436Asp)	MYO9B (E1436D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399987	NM_004145.4(MYO9B):c.4331A>G (p.His1444Arg)	MYO9B (H1444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051749	NM_004145.4(MYO9B):c.4332C>T (p.His1444=)	MYO9B	Single nucleotide variant (synonymous variant)	MYO9B-related condition	GLikely benign
Select item 2309041	NM_004145.4(MYO9B):c.4344A>C (p.Glu1448Asp)	MYO9B (E1448D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403217	NM_004145.4(MYO9B):c.4363G>A (p.Gly1455Ser)	MYO9B (G1455S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2614629	NM_004145.4(MYO9B):c.4378T>A (p.Ser1460Thr)	MYO9B (S1460T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569125	NM_004145.4(MYO9B):c.4414C>T (p.Arg1472Cys)	MYO9B (R1472C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219183	NM_004145.4(MYO9B):c.4417A>G (p.Thr1473Ala)	MYO9B (T1473A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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