MYO1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
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 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 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 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 146265	GRCh38/hg38 17p13.3(chr17:847955-1641601)x3	ABR, ABR-AS1 +43 more	Copy number gain	See cases	GPathogenic
Select item 57358	GRCh38/hg38 17p13.3(chr17:847955-1589181)x3	ABR, ABR-AS1 +42 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 154829	GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 152588	GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3	ABR, ABR-AS1 +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 155491	GRCh38/hg38 17p13.3(chr17:1149477-1473293)x3	ABR, ABR-AS1 +16 more	Copy number gain	See cases	GLikely pathogenic
Select item 58670	GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3	ABR, ABR-AS1 +35 more	Copy number gain	See cases	GPathogenic
Select item 932227	GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3	LOC130059870, LOC130059871 +34 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 57472	GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1	ABR, BHLHA9 +19 more	Copy number loss	See cases	GPathogenic
Select item 59560	GRCh38/hg38 17p13.3(chr17:1281181-1541624)x1	CRK, INPP5K +16 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 149182	GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3	CRK, INPP5K +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 58672	GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3	CRK, INPP5K +23 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 57176	GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3	CRK, INPP5K +21 more	Copy number gain	See cases	GPathogenic
Select item 152374	GRCh38/hg38 17p13.3(chr17:1373829-1525806)x1	CRK, INPP5K +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 148719	GRCh38/hg38 17p13.3(chr17:1393938-1624152)x3	CRK, INPP5K +21 more	Copy number gain	See cases	GUncertain significance
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 2596852	NM_001080779.2(MYO1C):c.3122C>T (p.Ser1041Leu)	MYO1C (S1022L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675652	NM_001080779.2(MYO1C):c.3072G>A (p.Thr1024=)	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 3163334	NM_001080779.2(MYO1C):c.3060G>C (p.Gln1020His)	MYO1C (Q1020H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461842	NM_001080779.2(MYO1C):c.3037G>A (p.Val1013Met)	MYO1C (V1013M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297787	NM_001080779.2(MYO1C):c.3005C>T (p.Thr1002Met)	MYO1C (T978M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045414	NM_001080779.2(MYO1C):c.2994C>T (p.His998=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
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 781233	NM_001080779.2(MYO1C):c.2940T>C (p.His980=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2475522	NM_001080779.2(MYO1C):c.2884G>A (p.Ala962Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2604459	NM_001080779.2(MYO1C):c.2842G>A (p.Val948Ile)	MYO1C (V924I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 513840	NM_001080779.2(MYO1C):c.2841C>T (p.Val947=)	MYO1C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2594536	NM_001080779.2(MYO1C):c.2836G>A (p.Ala946Thr)	MYO1C (A927T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320836	NM_001080779.2(MYO1C):c.2833A>G (p.Asn945Asp)	MYO1C (N945D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757739	NM_001080779.2(MYO1C):c.2817G>A (p.Gln939=)	MYO1C	Single nucleotide variant (synonymous variant)	not provided	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 2213556	NM_001080779.2(MYO1C):c.2789G>A (p.Arg930His)	MYO1C (R911H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2555166	NM_001080779.2(MYO1C):c.2765C>T (p.Ala922Val)	MYO1C (A922V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3163296	NM_001080779.2(MYO1C):c.2735A>G (p.Gln912Arg)	MYO1C (Q893R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214277	NM_001080779.2(MYO1C):c.2726G>A (p.Arg909Gln)	MYO1C (R874Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3046728	NM_001080779.2(MYO1C):c.2625C>T (p.Ala875=)	MYO1C	Single nucleotide variant (synonymous variant)	MYO1C-related disorder	GLikely benign
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

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