MYO10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC132089229, LOC132089231 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993638, LOC129993639 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	LOC129993741, LOC129993742 +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	MIR4636, MIR4637 +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC128772264, LOC129389254 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	RETREG1-AS1, ROPN1L +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	MIR4458HG, MIR4635 +556 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC129993539, LOC129993540 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	LOC129993673, LOC129993674 +559 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	LOC123493263, LOC123493264 +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993669, LOC129993670 +552 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	LOC129993650, LOC129993651 +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993700, LOC129993701 +521 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	LOC129993547, LOC129993548 +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC108254683, LOC110120635 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	ADAMTS16, ADAMTS16-DT +304 more	Copy number loss	See cases	GPathogenic
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 155086	GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1	BASP1, BASP1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 2380305	NM_012334.3(MYO10):c.6146G>A (p.Arg2049His)	MYO10 (R2049H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469886	NM_012334.3(MYO10):c.6092A>G (p.Lys2031Arg)	MYO10 (K2031R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788980	NM_012334.3(MYO10):c.6071G>C (p.Ser2024Thr)	MYO10 (S2024T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2484672	NM_012334.3(MYO10):c.5824A>C (p.Lys1942Gln)	MYO10 (K1942Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601619	NM_012334.3(MYO10):c.5753C>T (p.Ser1918Phe)	MYO10 (S1918F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246559	NM_012334.3(MYO10):c.5698C>T (p.Arg1900Trp)	MYO10 (R1900W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361734	NM_012334.3(MYO10):c.5564A>T (p.Tyr1855Phe)	MYO10 (Y1855F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295313	NM_012334.3(MYO10):c.5551C>T (p.Leu1851Phe)	MYO10 (L1851F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286795	NM_012334.3(MYO10):c.5549C>T (p.Pro1850Leu)	MYO10 (P1850L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400191	NM_012334.3(MYO10):c.5528C>T (p.Thr1843Ile)	MYO10 (T1843I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616957	NM_012334.3(MYO10):c.5479C>T (p.Leu1827Phe)	MYO10 (L1827F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507464	NM_012334.3(MYO10):c.5467C>G (p.Pro1823Ala)	MYO10 (P1823A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469212	NM_012334.3(MYO10):c.5465C>T (p.Ala1822Val)	MYO10 (A1822V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477696	NM_012334.3(MYO10):c.5387A>G (p.Asn1796Ser)	MYO10 (N1796S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713592	NM_012334.3(MYO10):c.5370C>T (p.Cys1790=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2263274	NM_012334.3(MYO10):c.5362C>G (p.Leu1788Val)	MYO10 (L1788V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594245	NM_012334.3(MYO10):c.5321C>T (p.Thr1774Ile)	MYO10 (T1774I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283773	NM_012334.3(MYO10):c.5281G>A (p.Val1761Ile)	MYO10 (V1761I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306036	NM_012334.3(MYO10):c.5146A>G (p.Ile1716Val)	MYO10 (I1716V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367246	NM_012334.3(MYO10):c.5014A>G (p.Thr1672Ala)	MYO10 (T1672A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791623	NM_012334.3(MYO10):c.5004C>T (p.Tyr1668=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2471721	NM_012334.3(MYO10):c.4970G>A (p.Arg1657Gln)	MYO10 (R1657Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709776	NM_012334.3(MYO10):c.4818G>A (p.Leu1606=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785116	NM_012334.3(MYO10):c.4782G>A (p.Gln1594=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779421	NM_012334.3(MYO10):c.4629G>A (p.Pro1543=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724468	NM_012334.3(MYO10):c.4593G>A (p.Pro1531=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325293	NM_012334.3(MYO10):c.4592C>T (p.Pro1531Leu)	MYO10 (P1531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770909	NM_012334.3(MYO10):c.4559C>T (p.Ser1520Leu)	MYO10 (S1520L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790015	NM_012334.3(MYO10):c.4554G>A (p.Leu1518=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554520	NM_012334.3(MYO10):c.4511C>G (p.Thr1504Ser)	MYO10 (T1504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722519	NM_012334.3(MYO10):c.4482C>T (p.Asn1494=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487657	NM_012334.3(MYO10):c.4460G>T (p.Arg1487Leu)	MYO10 (R1487L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268701	NM_012334.3(MYO10):c.4448A>G (p.Asn1483Ser)	MYO10 (N1483S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229002	NM_012334.3(MYO10):c.4426C>T (p.Arg1476Trp)	MYO10 (R1476W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289933	NM_012334.3(MYO10):c.4234C>A (p.Leu1412Met)	MYO10 (L1412M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771369	NM_012334.3(MYO10):c.4143G>A (p.Arg1381=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778169	NM_012334.3(MYO10):c.4107G>A (p.Pro1369=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391764	NM_012334.3(MYO10):c.4103C>T (p.Thr1368Met)	MYO10 (T1368M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476426	NM_012334.3(MYO10):c.4097C>T (p.Ala1366Val)	MYO10 (A1366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709777	NM_012334.3(MYO10):c.3990G>A (p.Val1330=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2595569	NM_012334.3(MYO10):c.3938A>G (p.Asp1313Gly)	MYO10 (D1313G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152883	GRCh38/hg38 5p15.1(chr5:16687561-16803648)x3	MYO10	Copy number gain	See cases	GUncertain significance
Select item 2294459	NM_012334.3(MYO10):c.3895A>G (p.Ser1299Gly)	MYO10 (S1299G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303349	NM_012334.3(MYO10):c.3857G>C (p.Arg1286Thr)	MYO10 (R1286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302323	NM_012334.3(MYO10):c.3853G>A (p.Asp1285Asn)	MYO10 (D1285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494767	NM_012334.3(MYO10):c.3845T>A (p.Ile1282Asn)	MYO10 (I1282N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514858	NM_012334.3(MYO10):c.3794C>T (p.Thr1265Met)	MYO10 (T1265M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568951	NM_012334.3(MYO10):c.3710G>A (p.Arg1237His)	MYO10 (R1237H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234247	NM_012334.3(MYO10):c.3686T>C (p.Leu1229Pro)	MYO10 (L1229P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211483	NM_012334.3(MYO10):c.3668G>C (p.Gly1223Ala)	MYO10 (G1223A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251023	NM_012334.3(MYO10):c.3612C>G (p.Phe1204Leu)	MYO10 (F1204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490152	NM_012334.3(MYO10):c.3431C>T (p.Ser1144Leu)	MYO10 (S1144L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252435	NM_012334.3(MYO10):c.3426G>T (p.Gln1142His)	MYO10 (Q1142H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523479	NM_012334.3(MYO10):c.3404G>A (p.Arg1135Gln)	MYO10 (R1135Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385823	NM_012334.3(MYO10):c.3358G>A (p.Asp1120Asn)	MYO10 (D1120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537029	NM_012334.3(MYO10):c.3319G>A (p.Val1107Met)	MYO10 (V1107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553994	NM_012334.3(MYO10):c.3271T>C (p.Tyr1091His)	MYO10 (Y1091H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724469	NM_012334.3(MYO10):c.3207C>A (p.Gly1069=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720335	NM_012334.3(MYO10):c.3207C>T (p.Gly1069=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2298968	NM_012334.3(MYO10):c.3190C>T (p.His1064Tyr)	MYO10 (H1064Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303156	NM_012334.3(MYO10):c.3181G>A (p.Gly1061Arg)	MYO10 (G1061R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536115	NM_012334.3(MYO10):c.3088T>G (p.Ser1030Ala)	MYO10 (S1030A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212389	NM_012334.3(MYO10):c.3007G>A (p.Ala1003Thr)	MYO10 (A1003T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315548	NM_012334.3(MYO10):c.3000C>A (p.Asp1000Glu)	MYO10 (D1000E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481886	NM_012334.3(MYO10):c.2875C>T (p.Arg959Trp)	MYO10 (R959W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785117	NM_012334.3(MYO10):c.2871C>T (p.Ile957=)	MYO10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2375249	NM_012334.3(MYO10):c.2847G>C (p.Glu949Asp)	MYO10 (E949D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399784	NM_012334.3(MYO10):c.2795A>G (p.Glu932Gly)	MYO10 (E932G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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