"GeneDx"[submitter] AND "MYO5A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1280102	NM_001382347.1(MYO5A):c.*32T>C	MYO5A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1723023	NM_001382347.1(MYO5A):c.5500C>T (p.Arg1834Ter)	MYO5A (R1782* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 770432	NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu)	MYO5A (S1673L +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 255655	NM_001382347.1(MYO5A):c.5040T>C (p.Asp1680=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2661988	NM_001382347.1(MYO5A):c.4976C>T (p.Thr1659Met)	MYO5A (T1607M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181693	NM_001382347.1(MYO5A):c.4952-217G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232805	NM_001382347.1(MYO5A):c.4952-286C>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244587	NM_001382347.1(MYO5A):c.4951+54G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174465	NM_001382347.1(MYO5A):c.4800+261T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286954	NM_001382347.1(MYO5A):c.4711-71A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372212	NM_001382347.1(MYO5A):c.4568G>A (p.Arg1523His)	MYO5A (R1471H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238884	NM_001382347.1(MYO5A):c.4409-86A>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258445	NM_001382347.1(MYO5A):c.4408+171A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245926	NM_001382347.1(MYO5A):c.4239+178G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252962	NM_001382347.1(MYO5A):c.4041-57G>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225307	NM_001382347.1(MYO5A):c.4040+291G>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269492	NM_001382347.1(MYO5A):c.4040+255C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235969	NM_001382347.1(MYO5A):c.4040+215dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 1313469	NM_001382347.1(MYO5A):c.4028A>G (p.Lys1343Arg)	MYO5A (K1343R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308383	NM_001382347.1(MYO5A):c.4000G>C (p.Glu1334Gln)	MYO5A (E1334Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 255652	NM_001382347.1(MYO5A):c.3960A>T (p.Arg1320Ser)	MYO5A (R1320S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1295117	NM_001382347.1(MYO5A):c.3960-63C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289630	NM_001382347.1(MYO5A):c.3959+129A>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289738	NM_001382347.1(MYO5A):c.3859-314T>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247578	NM_001382347.1(MYO5A):c.3858+12dup	MYO5A	Duplication (intron variant)	Griscelli syndrome type 1 +1 more	GBenign
Select item 1265519	NM_001382347.1(MYO5A):c.3850-101_3850-100dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 1295093	NM_001382347.1(MYO5A):c.3849+285A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221138	NM_001382347.1(MYO5A):c.3849+221T>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230751	NM_001382347.1(MYO5A):c.3849+133T>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311536	NM_001382347.1(MYO5A):c.3740T>C (p.Val1247Ala)	MYO5A (V1247A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255650	NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys)	MYO5A (R1246C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1288311	NM_001382347.1(MYO5A):c.3621+56T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252385	NM_001382347.1(MYO5A):c.3424-247T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264304	NM_001382347.1(MYO5A):c.3424-305G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239480	NM_001382347.1(MYO5A):c.3424-315C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255647	NM_001382347.1(MYO5A):c.3414A>G (p.Ser1138=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1250271	NM_001382347.1(MYO5A):c.3309+225C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255646	NM_001382347.1(MYO5A):c.3309+18del	MYO5A	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1241155	NM_001382347.1(MYO5A):c.3161-291G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435922	NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)	MYO5A (V1046M +1 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1265600	NM_001382347.1(MYO5A):c.3066+298_3066+299del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 1265516	NM_001382347.1(MYO5A):c.3066+296_3066+299del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 1238094	NM_001382347.1(MYO5A):c.3066+299del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 1183676	NM_001382347.1(MYO5A):c.3066+277A>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314403	NM_001382347.1(MYO5A):c.3008G>T (p.Arg1003Leu)	MYO5A (R1003L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313470	NM_001382347.1(MYO5A):c.2828A>G (p.Tyr943Cys)	MYO5A (Y943C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1224778	NM_001382347.1(MYO5A):c.2818-56A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265542	NM_001382347.1(MYO5A):c.2818-308C>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280878	NM_001382347.1(MYO5A):c.2817+201TTA[16]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1264820	NM_001382347.1(MYO5A):c.2817+201TTA[10]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1239135	NM_001382347.1(MYO5A):c.2817+201TTA[12]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1182562	NM_001382347.1(MYO5A):c.2817+201TTA[14]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 255642	NM_001382347.1(MYO5A):c.2730C>T (p.Ile910=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1235318	NM_001382347.1(MYO5A):c.2578-129A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231407	NM_001382347.1(MYO5A):c.2577+303A>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233856	NM_001382347.1(MYO5A):c.2577+295T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288002	NM_001382347.1(MYO5A):c.2577+262T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249608	NM_001382347.1(MYO5A):c.2577+232C>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242219	NM_001382347.1(MYO5A):c.2577+51A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281804	NM_001382347.1(MYO5A):c.2421-78A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236821	NM_001382347.1(MYO5A):c.2209-67C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244419	NM_001382347.1(MYO5A):c.2208+38G>A	LOC130057087, MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368910	NM_001382347.1(MYO5A):c.2141T>C (p.Met714Thr)	LOC130057087, MYO5A (M714T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243419	NM_001382347.1(MYO5A):c.2013-179A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238192	NM_001382347.1(MYO5A):c.2012+27A>G	MYO5A	Single nucleotide variant (intron variant)	Griscelli syndrome type 1 +1 more	GBenign
Select item 1232598	NM_001382347.1(MYO5A):c.1914+151C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255640	NM_001382347.1(MYO5A):c.1880T>C (p.Met627Thr)	MYO5A (M627T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2576660	NM_001382347.1(MYO5A):c.1825C>T (p.Arg609Cys)	MYO5A (R609C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283005	NM_001382347.1(MYO5A):c.1753-193G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242119	NM_001382347.1(MYO5A):c.1752+279C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272261	NM_001382347.1(MYO5A):c.1669-167C>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287463	NM_001382347.1(MYO5A):c.1668+58A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290263	NM_001382347.1(MYO5A):c.1543-13del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 255639	NM_001382347.1(MYO5A):c.1543-13T>C	MYO5A	Single nucleotide variant (intron variant)	Griscelli syndrome type 1 +2 more	GBenign
Select item 803099	NM_001382347.1(MYO5A):c.1543-84del	MYO5A	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1234291	NM_001382347.1(MYO5A):c.1542+123G>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223974	NM_001382347.1(MYO5A):c.1320-217del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 3368909	NM_001382347.1(MYO5A):c.1094G>T (p.Gly365Val)	MYO5A (G365V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276304	NM_001382347.1(MYO5A):c.1054-109A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261049	NM_001382347.1(MYO5A):c.1053+289C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242822	NM_001382347.1(MYO5A):c.1053+198TG[21]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1273060	NM_001382347.1(MYO5A):c.1053+198TG[17]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1221337	NM_001382347.1(MYO5A):c.1053+198TG[18]	MYO5A	Microsatellite (intron variant)	not provided	GBenign
Select item 1182757	NM_001382347.1(MYO5A):c.1053+41_1053+42del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 1310668	NM_001382347.1(MYO5A):c.968T>C (p.Met323Thr)	MYO5A (M323T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281074	NM_001382347.1(MYO5A):c.947-122A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250445	NM_001382347.1(MYO5A):c.947-225A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289368	NM_001382347.1(MYO5A):c.839-163_839-159del	MYO5A	Deletion (intron variant)	not provided	GBenign
Select item 1264580	NM_001382347.1(MYO5A):c.839-264G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228042	NM_001382347.1(MYO5A):c.757-213A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251645	NM_001382347.1(MYO5A):c.757-278T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261593	NM_001382347.1(MYO5A):c.756+130C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264010	NM_001382347.1(MYO5A):c.613-26A>G	MYO5A	Single nucleotide variant (intron variant)	Griscelli syndrome type 1 +1 more	GBenign
Select item 1288659	NM_001382347.1(MYO5A):c.613-129dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 1177829	NM_001382347.1(MYO5A):c.613-129_613-126dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 1251433	NM_001382347.1(MYO5A):c.613-308C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285851	NM_001382347.1(MYO5A):c.612+153G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255654	NM_001382347.1(MYO5A):c.456-4A>G	MYO5A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1245761	NM_001382347.1(MYO5A):c.456-36A>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign

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