"GeneDx"[submitter] AND "MYO1C"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 1183863	NM_001080779.2(MYO1C):c.*197C>T	MYO1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276129	NM_001080779.2(MYO1C):c.*109G>A	MYO1C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283328	NM_001080779.2(MYO1C):c.3166-32C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228948	NM_001080779.2(MYO1C):c.3166-44G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683250	NM_001080779.2(MYO1C):c.3166-87A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249204	NM_001080779.2(MYO1C):c.3166-292A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230321	NM_001080779.2(MYO1C):c.3166-320C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284188	NM_001080779.2(MYO1C):c.3165+281A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266641	NM_001080779.2(MYO1C):c.3165+77A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508122	NM_001080779.2(MYO1C):c.3159G>T (p.Leu1053=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 513744	NM_001080779.2(MYO1C):c.3150C>T (p.Asn1050=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254983	NM_001080779.2(MYO1C):c.3065+54G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316608	NM_001080779.2(MYO1C):c.3065+46_3065+47del	MYO1C	Deletion (intron variant)	not provided	GLikely benign
Select item 682721	NM_001080779.2(MYO1C):c.3065+35G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316116	NM_001080779.2(MYO1C):c.3065+31C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682784	NM_001080779.2(MYO1C):c.3065+21G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291838	NM_001080779.2(MYO1C):c.2968-8dup	MYO1C	Duplication (intron variant)	not provided	GBenign
Select item 1273128	NM_001080779.2(MYO1C):c.2968-52G>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240817	NM_001080779.2(MYO1C):c.2967+46A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247147	NM_001080779.2(MYO1C):c.2967+36T>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293713	NM_001080779.2(MYO1C):c.2967+11A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508632	NM_001080779.2(MYO1C):c.2856C>T (p.Asp952=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 508591	NM_001080779.2(MYO1C):c.2853G>A (p.Glu951=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 513840	NM_001080779.2(MYO1C):c.2841C>T (p.Val947=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 508143	NM_001080779.2(MYO1C):c.2802G>A (p.Lys934=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 517826	NM_001080779.2(MYO1C):c.2785G>A (p.Asp929Asn)	MYO1C (D894N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1275906	NM_001080779.2(MYO1C):c.2761-56G>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321470	NM_001080779.2(MYO1C):c.2760+37G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316264	NM_001080779.2(MYO1C):c.2760+11G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508616	NM_001080779.2(MYO1C):c.2649C>A (p.Gly883=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1318162	NM_001080779.2(MYO1C):c.2611-18C>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682653	NM_001080779.2(MYO1C):c.2611-24T>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253586	NM_001080779.2(MYO1C):c.2611-28=	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228905	NM_001080779.2(MYO1C):c.2611-139G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261230	NM_001080779.2(MYO1C):c.2611-185G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244280	NM_001080779.2(MYO1C):c.2611-206C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230326	NM_001080779.2(MYO1C):c.2611-218=	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245582	NM_001080779.2(MYO1C):c.2611-245C>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290970	NM_001080779.2(MYO1C):c.2610+189C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232199	NM_001080779.2(MYO1C):c.2596G>A (p.Glu866Lys)	MYO1C (E831K +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 218505	NM_001080779.2(MYO1C):c.2574A>C (p.Lys858Asn)	MYO1C (K858N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 682652	NM_001080779.2(MYO1C):c.2527-62C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239805	NM_001080779.2(MYO1C):c.2527-79A>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274108	NM_001080779.2(MYO1C):c.2527-205C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278767	NM_001080779.2(MYO1C):c.2526+138_2526+139insA	MYO1C	Insertion (intron variant)	not provided	GBenign
Select item 512849	NM_001080779.2(MYO1C):c.2487G>A (p.Leu829=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 508101	NM_001080779.2(MYO1C):c.2477A>G (p.Gln826Arg)	MYO1C (Q791R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 683482	NM_001080779.2(MYO1C):c.2437C>T (p.Arg813Cys)	MYO1C (R813C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730875	NM_001080779.2(MYO1C):c.2409C>T (p.Pro803=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293745	NM_001080779.2(MYO1C):c.2395G>A (p.Ala799Thr)	MYO1C (A764T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1317782	NM_001080779.2(MYO1C):c.2385C>T (p.Val795=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508100	NM_001080779.2(MYO1C):c.2383G>A (p.Val795Ile)	MYO1C (V760I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 508613	NM_001080779.2(MYO1C):c.2367-8C>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316605	NM_001080779.2(MYO1C):c.2366+36A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317762	NM_001080779.2(MYO1C):c.2366+20G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516881	NM_001080779.2(MYO1C):c.2353C>A (p.Gln785Lys)	MYO1C (Q750K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1266833	NM_001080779.2(MYO1C):c.2281+47G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317788	NM_001080779.2(MYO1C):c.2251C>T (p.Arg751Trp)	MYO1C (R716W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1326181	NM_001080779.2(MYO1C):c.2213-62G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263102	NM_001080779.2(MYO1C):c.2212+170C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290739	NM_001080779.2(MYO1C):c.2135+18C>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682794	NM_001080779.2(MYO1C):c.2135+14G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266602	NM_001080779.2(MYO1C):c.2022-20G>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228175	NM_001080779.2(MYO1C):c.2022-219G>T	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508612	NM_001080779.2(MYO1C):c.2004C>T (p.Tyr668=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1181547	NM_001080779.2(MYO1C):c.1904-36G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682651	NM_001080779.2(MYO1C):c.1904-45del	MYO1C	Deletion (intron variant)	not provided	GBenign
Select item 1317755	NM_001080779.2(MYO1C):c.1798-11T>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278796	NM_001080779.2(MYO1C):c.1797+181_1797+182del	MYO1C	Deletion (intron variant)	not provided	GBenign
Select item 1221843	NM_001080779.2(MYO1C):c.1797+182del	MYO1C	Deletion (intron variant)	not provided	GBenign
Select item 1280951	NM_001080779.2(MYO1C):c.1797+163T>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326405	NM_001080779.2(MYO1C):c.1797+53A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231255	NM_001080779.2(MYO1C):c.1797+26A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180000	NM_001080779.2(MYO1C):c.1797+24G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317740	NM_001080779.2(MYO1C):c.1797+20G>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276733	NM_001080779.2(MYO1C):c.1797+20G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317790	NM_001080779.2(MYO1C):c.1779C>G (p.Asp593Glu)	MYO1C (D558E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 508121	NM_001080779.2(MYO1C):c.1758T>C (p.Phe586=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 682650	NM_001080779.2(MYO1C):c.1716+59G>C	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682964	NM_001080779.2(MYO1C):c.1716+22C>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242007	NM_001080779.2(MYO1C):c.1670-16G>A	LOC130059879, MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270759	NM_001080779.2(MYO1C):c.1670-17C>T	LOC130059879, MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680324	NM_001080779.2(MYO1C):c.1575-8A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668704	NM_001080779.2(MYO1C):c.1548T>C (p.Thr516=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218504	NM_001080779.2(MYO1C):c.1483-6C>G	MYO1C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1230892	NM_001080779.2(MYO1C):c.1483-65C>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264387	NM_001080779.2(MYO1C):c.1483-115A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508159	NM_001080779.2(MYO1C):c.1482+9T>G	MYO1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181705	NM_001080779.2(MYO1C):c.1348A>G (p.Ile450Val)	MYO1C (I415V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1316521	NM_001080779.2(MYO1C):c.1296-12_1296-10del	MYO1C	Deletion (intron variant)	not provided	GLikely benign
Select item 1264001	NM_001080779.2(MYO1C):c.1296-35A>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266427	NM_001080779.2(MYO1C):c.1295+61T>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508699	NM_001080779.2(MYO1C):c.1295+4G>A	MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265392	NM_001080779.2(MYO1C):c.1244C>T (p.Thr415Met)	MYO1C (T380M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 683969	NM_001080779.2(MYO1C):c.1241C>T (p.Thr414Ile)	MYO1C (T390I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1318148	NM_001080779.2(MYO1C):c.1212+19C>G	MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513839	NM_001080779.2(MYO1C):c.1212+10C>T	MYO1C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1302790	NM_001080779.2(MYO1C):c.1125G>A (p.Ala375=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GBenign

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