ClinVar for Gene (Select 84700) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360741	NM_032608.7(MYO18B):c.5477C>T (p.Thr1826Ile)	MYO18B (T1826I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360740	NM_032608.7(MYO18B):c.2708C>T (p.Thr903Ile)	MYO18B (T903I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357906	NM_032608.7(MYO18B):c.4434+4A>C	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	MYO18B-related disorder	GLikely benign
Select item 3354577	NM_032608.7(MYO18B):c.5971-3C>A	MYO18B	Single nucleotide variant (intron variant)	MYO18B-related disorder	GLikely benign
Select item 3353697	NM_032608.7(MYO18B):c.3926A>G (p.Lys1309Arg)	MYO18B (K1309R +1 more)	Single nucleotide variant (missense variant)	MYO18B-related disorder	GUncertain significance
Select item 3344772	NM_032608.7(MYO18B):c.3014C>G (p.Pro1005Arg)	MYO18B (P1005R)	Single nucleotide variant (missense variant)	MYO18B-related disorder	GUncertain significance
Select item 3343732	NM_032608.7(MYO18B):c.1234A>G (p.Thr412Ala)	MYO18B (T412A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297747	NM_032608.7(MYO18B):c.4526G>C (p.Arg1509Thr)	MYO18B, MYO18B-AS1 (R1509T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297746	NM_032608.7(MYO18B):c.3799A>C (p.Thr1267Pro)	MYO18B (T1267P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297745	NM_032608.7(MYO18B):c.2217G>A (p.Met739Ile)	MYO18B (M739I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297744	NM_032608.7(MYO18B):c.2197G>A (p.Ala733Thr)	MYO18B (A733T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297743	NM_032608.7(MYO18B):c.6937A>G (p.Ile2313Val)	MYO18B (I2313V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297741	NM_032608.7(MYO18B):c.5339G>C (p.Gly1780Ala)	MYO18B (G1780A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233821	NM_032608.7(MYO18B):c.7015del (p.Leu2339fs)	MYO18B (L2339fs +1 more)	Deletion (frameshift variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GPathogenic
Select item 3162718	NM_032608.7(MYO18B):c.949A>G (p.Lys317Glu)	MYO18B (K317E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162687	NM_032608.7(MYO18B):c.730G>C (p.Gly244Arg)	MYO18B (G244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162679	NM_032608.7(MYO18B):c.7245G>T (p.Met2415Ile)	MYO18B (M2416I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162629	NM_032608.7(MYO18B):c.6983G>C (p.Cys2328Ser)	MYO18B (C2328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162602	NM_032608.7(MYO18B):c.6704C>T (p.Thr2235Ile)	MYO18B (T2235I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162556	NM_032608.7(MYO18B):c.584C>T (p.Thr195Ile)	MYO18B (T195I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162473	NM_032608.7(MYO18B):c.4880G>T (p.Arg1627Leu)	MYO18B (R1628L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162464	NM_032608.7(MYO18B):c.472G>A (p.Ala158Thr)	MYO18B (A158T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162429	NM_032608.7(MYO18B):c.4079A>G (p.Lys1360Arg)	MYO18B (K1360R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162387	NM_032608.7(MYO18B):c.3550A>C (p.Met1184Leu)	MYO18B (M1185L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162382	NM_032608.7(MYO18B):c.3497G>A (p.Ser1166Asn)	MYO18B (S1166N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162358	NM_032608.7(MYO18B):c.3059A>G (p.Gln1020Arg)	MYO18B (Q1020R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162308	NM_032608.7(MYO18B):c.2527C>T (p.Arg843Trp)	MYO18B (R843W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162285	NM_032608.7(MYO18B):c.2239G>C (p.Ala747Pro)	MYO18B (A747P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162237	NM_032608.7(MYO18B):c.1648G>T (p.Ala550Ser)	MYO18B (A550S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162234	NM_032608.7(MYO18B):c.162G>C (p.Gln54His)	MYO18B (Q54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162222	NM_032608.7(MYO18B):c.1475A>C (p.Glu492Ala)	MYO18B (E492A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162216	NM_032608.7(MYO18B):c.1466C>T (p.Ala489Val)	MYO18B (A489V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065692	NM_032608.7(MYO18B):c.2884A>G (p.Thr962Ala)	MYO18B (T962A)	Single nucleotide variant (missense variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	GUncertain significance
Select item 3051833	NM_032608.7(MYO18B):c.2364C>T (p.Gly788=)	MYO18B	Single nucleotide variant (synonymous variant)	MYO18B-related disorder	GLikely benign
Select item 3047914	NM_032608.7(MYO18B):c.3579G>A (p.Arg1193=)	MYO18B	Single nucleotide variant (synonymous variant)	MYO18B-related disorder	GLikely benign
Select item 3047731	NM_032608.7(MYO18B):c.3774A>G (p.Thr1258=)	MYO18B	Single nucleotide variant (synonymous variant)	MYO18B-related disorder	GLikely benign
Select item 3030844	NM_032608.7(MYO18B):c.6470+8T>C	MYO18B	Single nucleotide variant (intron variant)	MYO18B-related disorder	GLikely benign
Select item 3029312	NM_032608.7(MYO18B):c.1273A>G (p.Met425Val)	MYO18B (M425V)	Single nucleotide variant (missense variant)	MYO18B-related disorder	GUncertain significance
Select item 3025961	NM_032608.7(MYO18B):c.1889A>T (p.Asp630Val)	MYO18B (D630V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021664	NM_032608.7(MYO18B):c.2296T>C (p.Leu766=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021142	NM_032608.7(MYO18B):c.5336A>G (p.Glu1779Gly)	MYO18B (E1779G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020371	NM_032608.7(MYO18B):c.5625G>A (p.Lys1875=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020110	NM_032608.7(MYO18B):c.3553-16C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018708	NM_032608.7(MYO18B):c.5591T>C (p.Met1864Thr)	MYO18B (M1865T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014497	NM_032608.7(MYO18B):c.5971-10C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014203	NM_032608.7(MYO18B):c.7104G>A (p.Pro2368=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012660	NM_032608.7(MYO18B):c.5364+11G>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011070	NM_032608.7(MYO18B):c.40-15G>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009649	NM_032608.7(MYO18B):c.7618C>T (p.Arg2540Ter)	MYO18B (R2540* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009575	NM_032608.7(MYO18B):c.2634C>G (p.Ile878Met)	MYO18B (I878M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007779	NM_032608.7(MYO18B):c.555A>G (p.Thr185=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007202	NM_032608.7(MYO18B):c.4948-16C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004880	NM_032608.7(MYO18B):c.4824-14T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004850	NM_032608.7(MYO18B):c.5478A>G (p.Thr1826=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004561	NM_032608.7(MYO18B):c.4995A>G (p.Leu1665=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003419	NM_032608.7(MYO18B):c.3886-18C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003321	NM_032608.7(MYO18B):c.3759G>A (p.Leu1253=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003125	NM_032608.7(MYO18B):c.1307G>A (p.Gly436Asp)	MYO18B (G436D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002133	NM_032608.7(MYO18B):c.5136G>A (p.Lys1712=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001614	NM_032608.7(MYO18B):c.3720G>A (p.Leu1240=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001574	NM_032608.7(MYO18B):c.2214A>G (p.Thr738=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001148	NM_032608.7(MYO18B):c.1187G>C (p.Gly396Ala)	MYO18B (G396A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000948	NM_032608.7(MYO18B):c.4080+20T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999734	NM_032608.7(MYO18B):c.2521+19G>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999599	NM_032608.7(MYO18B):c.5971G>C (p.Val1991Leu)	MYO18B (V1992L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999317	NM_032608.7(MYO18B):c.6123G>T (p.Arg2041=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998754	NM_032608.7(MYO18B):c.1523A>G (p.Asp508Gly)	MYO18B (D508G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998238	NM_032608.7(MYO18B):c.3776-5C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996714	NM_032608.7(MYO18B):c.2877G>C (p.Arg959=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995429	NM_032608.7(MYO18B):c.2763G>C (p.Ala921=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995285	NM_032608.7(MYO18B):c.5445G>A (p.Gln1815=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995166	NM_032608.7(MYO18B):c.1453del (p.Gln485fs)	MYO18B (Q485fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2995103	NM_032608.7(MYO18B):c.2859G>C (p.Arg953=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994897	NM_032608.7(MYO18B):c.2211+17G>A	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994537	NM_032608.7(MYO18B):c.4793G>A (p.Arg1598Gln)	MYO18B, MYO18B-AS1 (R1598Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993892	NM_032608.7(MYO18B):c.3438G>C (p.Leu1146=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993457	NM_032608.7(MYO18B):c.2521+7C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993355	NM_032608.7(MYO18B):c.1467C>T (p.Ala489=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993299	NM_032608.7(MYO18B):c.104G>A (p.Gly35Glu)	MYO18B (G35E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993047	NM_032608.7(MYO18B):c.2604G>C (p.Thr868=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992237	NM_032608.7(MYO18B):c.4544-19C>T	MYO18B, MYO18B-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992097	NM_032608.7(MYO18B):c.1098G>C (p.Gly366=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991810	NM_032608.7(MYO18B):c.881A>G (p.Glu294Gly)	MYO18B (E294G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990910	NM_032608.7(MYO18B):c.4947+15A>G	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990522	NM_032608.7(MYO18B):c.4158G>A (p.Gln1386=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989836	NM_032608.7(MYO18B):c.5364+14A>G	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989653	NM_032608.7(MYO18B):c.449G>T (p.Arg150Met)	MYO18B (R150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989283	NM_032608.7(MYO18B):c.2312+15C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989237	NM_032608.7(MYO18B):c.3060+14C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989005	NM_032608.7(MYO18B):c.2673C>T (p.Leu891=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988321	NM_032608.7(MYO18B):c.6132G>A (p.Glu2044=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987305	NM_032608.7(MYO18B):c.318C>A (p.Gly106=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987240	NM_032608.7(MYO18B):c.3368+17T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987176	NM_032608.7(MYO18B):c.3268G>T (p.Gly1090Ter)	MYO18B (G1091* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2987100	NM_032608.7(MYO18B):c.1143G>A (p.Thr381=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986348	NM_032608.7(MYO18B):c.2595G>A (p.Glu865=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986280	NM_032608.7(MYO18B):c.3702C>A (p.Ala1234=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986279	NM_032608.7(MYO18B):c.3693A>C (p.Gly1231=)	MYO18B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986186	NM_032608.7(MYO18B):c.1580-4C>T	MYO18B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985906	NM_032608.7(MYO18B):c.3776-3T>C	MYO18B	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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