"GeneDx"[submitter] AND "MYO5B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326990	NM_001080467.3(MYO5B):c.*308C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326995	NM_001080467.3(MYO5B):c.*109del	MYO5B, SNHG22	Deletion (3 prime UTR variant)	Diarrhea with Microvillus Atrophy +1 more	GBenign
Select item 326998	NM_001080467.3(MYO5B):c.5433A>C (p.Leu1811=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1280926	NM_001080467.3(MYO5B):c.5394+116G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232260	NM_001080467.3(MYO5B):c.5314-166C>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245699	NM_001080467.3(MYO5B):c.5313+201A>G	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278709	NM_001080467.3(MYO5B):c.5313+72G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278056	NM_001080467.3(MYO5B):c.4853-320G>A	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2172136	NM_001080467.3(MYO5B):c.4844C>T (p.Pro1615Leu)	MYO5B, SNHG22 (P1615L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620180	NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter)	MYO5B, SNHG22 (E1589*)	Single nucleotide variant (nonsense)	Congenital microvillous atrophy +1 more	GConflicting classifications of pathogenicity
Select item 1287270	NM_001080467.3(MYO5B):c.4701+199G>C	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314692	NM_001080467.3(MYO5B):c.4664G>A (p.Arg1555His)	MYO5B, SNHG22 (R1555H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327010	NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=)	MYO5B, SNHG22	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1238843	NM_001080467.3(MYO5B):c.4460-25C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295099	NM_001080467.3(MYO5B):c.4459+252G>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272628	NM_001080467.3(MYO5B):c.4459+50C>T	MYO5B, SNHG22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327014	NM_001080467.3(MYO5B):c.4315+5G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1516752	NM_001080467.3(MYO5B):c.4271A>G (p.Lys1424Arg)	LOC126862745, MYO5B +1 more (K1424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246653	NM_001080467.3(MYO5B):c.4222-73G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1246590	NM_001080467.3(MYO5B):c.4222-98T>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1265014	NM_001080467.3(MYO5B):c.4222-132C>T	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 327015	NM_001080467.3(MYO5B):c.4145C>T (p.Thr1382Met)	MYO5B (T1382M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 327017	NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu)	MYO5B (G1321E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1288955	NM_001080467.3(MYO5B):c.3945-41G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 889046	NM_001080467.3(MYO5B):c.3647T>G (p.Leu1216Arg)	MYO5B (L1216R)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +2 more	GUncertain significance
Select item 1228358	NM_001080467.3(MYO5B):c.3604-55G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257610	NM_001080467.3(MYO5B):c.3604-275A>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240431	NM_001080467.3(MYO5B):c.3603+283T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238612	NM_001080467.3(MYO5B):c.3603+33A>G	MYO5B	Single nucleotide variant (intron variant)	Congenital microvillous atrophy +1 more	GBenign
Select item 327025	NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=)	MYO5B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1280241	NM_001080467.3(MYO5B):c.3538-185C>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259554	NM_001080467.3(MYO5B):c.3538-293del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1289411	NM_001080467.3(MYO5B):c.3537+278T>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296804	NM_001080467.3(MYO5B):c.3537+222T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242989	NM_001080467.3(MYO5B):c.3537+122G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266297	NM_001080467.3(MYO5B):c.3537+58T>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224149	NM_001080467.3(MYO5B):c.3397-83T>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268631	NM_001080467.3(MYO5B):c.3397-291T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261964	NM_001080467.3(MYO5B):c.3396+264T>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296805	NM_001080467.3(MYO5B):c.3396+259dup	MYO5B	Duplication (intron variant)	not provided	GBenign
Select item 1261316	NM_001080467.3(MYO5B):c.3396+222A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274935	NM_001080467.3(MYO5B):c.3396+124T>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327028	NM_001080467.3(MYO5B):c.3396+9T>C	MYO5B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1249098	NM_001080467.3(MYO5B):c.3277-147T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262086	NM_001080467.3(MYO5B):c.3276+296T>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283502	NM_001080467.3(MYO5B):c.3276+117G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327030	NM_001080467.3(MYO5B):c.3276+11T>C	MYO5B	Single nucleotide variant (intron variant)	Congenital microvillous atrophy +2 more	GBenign
Select item 1304940	NM_001080467.3(MYO5B):c.3271A>C (p.Ile1091Leu)	MYO5B (I1091L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327031	NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup)	MYO5B	Duplication (inframe_insertion)	Diarrhea with Microvillus Atrophy +3 more	GBenign
Select item 1243761	NM_001080467.3(MYO5B):c.3131-65A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222033	NM_001080467.3(MYO5B):c.3131-70G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257412	NM_001080467.3(MYO5B):c.3046-88T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229984	NM_001080467.3(MYO5B):c.3046-113A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262678	NM_001080467.3(MYO5B):c.3046-118A>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740504	NM_001080467.3(MYO5B):c.3001A>T (p.Ile1001Phe)	MYO5B (I1001F)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +1 more	GConflicting classifications of pathogenicity
Select item 1303936	NM_001080467.3(MYO5B):c.2887AAG[1] (p.Lys964del)	MYO5B (K964del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1296807	NM_001080467.3(MYO5B):c.2812-231_2812-223del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1256718	NM_001080467.3(MYO5B):c.2811+298_2811+299insATC	MYO5B	Insertion (intron variant)	not provided	GBenign
Select item 327038	NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His)	MYO5B (R918H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 327041	NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr)	MYO5B (A864T)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +1 more	GConflicting classifications of pathogenicity
Select item 2416485	NM_001080467.3(MYO5B):c.2470C>G (p.Arg824Gly)	MYO5B (R824G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246112	NM_001080467.3(MYO5B):c.2415-298G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228087	NM_001080467.3(MYO5B):c.2091-117G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245082	NM_001080467.3(MYO5B):c.2090+284A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258251	NM_001080467.3(MYO5B):c.2090+164A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249659	NM_001080467.3(MYO5B):c.2090+99A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270650	NM_001080467.3(MYO5B):c.2090+76dup	MYO5B	Duplication (intron variant)	not provided	GBenign
Select item 1278176	NM_001080467.3(MYO5B):c.2090+26T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327053	NM_001080467.3(MYO5B):c.2049G>A (p.Val683=)	MYO5B	Single nucleotide variant (synonymous variant)	Congenital microvillous atrophy +2 more	GBenign
Select item 403216	NM_001080467.3(MYO5B):c.2004-14_2004-13del	MYO5B	Deletion (intron variant)	not specified +1 more	GBenign
Select item 327057	NM_001080467.3(MYO5B):c.2004-13del	MYO5B	Deletion (intron variant)	not provided +2 more	GBenign
Select item 327060	NM_001080467.3(MYO5B):c.1968C>T (p.Arg656=)	MYO5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1266962	NM_001080467.3(MYO5B):c.1906-85C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288851	NM_001080467.3(MYO5B):c.1906-240G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272533	NM_001080467.3(MYO5B):c.1906-240G>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271581	NM_001080467.3(MYO5B):c.1905+256C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236466	NM_001080467.3(MYO5B):c.1905+238G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251618	NM_001080467.3(MYO5B):c.1905+28T>C	MYO5B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1303924	NM_001080467.3(MYO5B):c.1844G>A (p.Arg615His)	MYO5B (R615H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182095	NM_001080467.3(MYO5B):c.1753-105T>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297895	NM_001080467.3(MYO5B):c.1752+139C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278657	NM_001080467.3(MYO5B):c.1668+329G>C	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249248	NM_001080467.3(MYO5B):c.1668+291_1668+292del	MYO5B	Microsatellite (intron variant)	not provided	GBenign
Select item 1289648	NM_001080467.3(MYO5B):c.1668+279_1668+290del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1267028	NM_001080467.3(MYO5B):c.1668+285_1668+290del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1231916	NM_001080467.3(MYO5B):c.1668+287_1668+290del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1226520	NM_001080467.3(MYO5B):c.1668+281_1668+290del	MYO5B	Deletion (intron variant)	not provided	GBenign
Select item 1295112	NM_001080467.3(MYO5B):c.1668+243CA[20]	MYO5B	Microsatellite (intron variant)	not provided	GBenign
Select item 1243030	NM_001080467.3(MYO5B):c.1668+243CA[22]	MYO5B	Microsatellite (intron variant)	not provided	GBenign
Select item 1238444	NM_001080467.3(MYO5B):c.1668+176T>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290306	NM_001080467.3(MYO5B):c.1668+23C>T	MYO5B	Single nucleotide variant (intron variant)	Congenital microvillous atrophy +1 more	GBenign
Select item 2577762	NM_001080467.3(MYO5B):c.1576C>T (p.Gln526Ter)	MYO5B (Q526*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1305340	NM_001080467.3(MYO5B):c.1555G>A (p.Gly519Arg)	MYO5B (G519R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270213	NM_001080467.3(MYO5B):c.1546-93A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247013	NM_001080467.3(MYO5B):c.1546-180C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283435	NM_001080467.3(MYO5B):c.1546-182G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247482	NM_001080467.3(MYO5B):c.1546-233C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224756	NM_001080467.3(MYO5B):c.1546-329C>T	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257644	NM_001080467.3(MYO5B):c.1545+291A>G	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232478	NM_001080467.3(MYO5B):c.1545+172G>A	MYO5B	Single nucleotide variant (intron variant)	not provided	GBenign

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