MYLK3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 150687	GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3	LOC130058916, LOC130058917 +7 more	Copy number gain	See cases	GLikely benign
Select item 2858993	NM_182493.3(MYLK3):c.2460A>C (p.Ter820Tyr)	MYLK3	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1937320	NM_182493.3(MYLK3):c.2456C>T (p.Pro819Leu)	MYLK3 (P819L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430683	NM_182493.3(MYLK3):c.2453C>T (p.Ser818Phe)	MYLK3 (S477F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025132	NM_182493.3(MYLK3):c.2452T>G (p.Ser818Ala)	MYLK3 (S818A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665017	NM_182493.3(MYLK3):c.2450C>A (p.Thr817Asn)	MYLK3 (T476N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1920391	NM_182493.3(MYLK3):c.2449A>G (p.Thr817Ala)	MYLK3 (T476A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923140	NM_182493.3(MYLK3):c.2442A>G (p.Lys814=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379134	NM_182493.3(MYLK3):c.2442del (p.Lys814fs)	MYLK3 (K473fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1521974	NM_182493.3(MYLK3):c.2435T>C (p.Leu812Ser)	MYLK3 (L812S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463005	NM_182493.3(MYLK3):c.2425G>A (p.Ala809Thr)	MYLK3 (A809T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791158	NM_182493.3(MYLK3):c.2414T>G (p.Val805Gly)	MYLK3 (V464G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407902	NM_182493.3(MYLK3):c.2413G>A (p.Val805Met)	MYLK3 (V464M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929574	NM_182493.3(MYLK3):c.2410T>C (p.Tyr804His)	MYLK3 (Y463H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2987281	NM_182493.3(MYLK3):c.2404C>T (p.His802Tyr)	MYLK3 (H461Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562390	NM_182493.3(MYLK3):c.2401-4C>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031903	NM_182493.3(MYLK3):c.2401-6del	MYLK3	Deletion (intron variant)	not provided	GLikely benign
Select item 1926078	NM_182493.3(MYLK3):c.2401-7C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654967	NM_182493.3(MYLK3):c.2401-10T>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005968	NM_182493.3(MYLK3):c.2401-11C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999128	NM_182493.3(MYLK3):c.2401-13T>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530033	NM_182493.3(MYLK3):c.2401-19A>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2834049	NM_182493.3(MYLK3):c.2400+8G>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983006	NM_182493.3(MYLK3):c.2400+1G>A	MYLK3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1660803	NM_182493.3(MYLK3):c.2394A>G (p.Lys798=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096276	NM_182493.3(MYLK3):c.2384C>T (p.Ala795Val)	MYLK3 (A454V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000192	NM_182493.3(MYLK3):c.2377T>C (p.Tyr793His)	MYLK3 (Y793H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847437	NM_182493.3(MYLK3):c.2374A>G (p.Lys792Glu)	MYLK3 (K792E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962193	NM_182493.3(MYLK3):c.2364A>C (p.Leu788=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464203	NM_182493.3(MYLK3):c.2359C>G (p.Gln787Glu)	MYLK3 (Q787E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352042	NM_182493.3(MYLK3):c.2359C>T (p.Gln787Ter)	MYLK3 (Q446* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2023356	NM_182493.3(MYLK3):c.2355A>G (p.Lys785=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523596	NM_182493.3(MYLK3):c.2348G>A (p.Arg783His)	MYLK3 (R442H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1521719	NM_182493.3(MYLK3):c.2347C>T (p.Arg783Cys)	MYLK3 (R442C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065584	NM_182493.3(MYLK3):c.2341A>G (p.Lys781Glu)	MYLK3 (K440E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537153	NM_182493.3(MYLK3):c.2337A>G (p.Arg779=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001618	NM_182493.3(MYLK3):c.2333C>G (p.Ser778Ter)	MYLK3 (S778* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1939857	NM_182493.3(MYLK3):c.2329G>T (p.Ala777Ser)	MYLK3 (A436S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470413	NM_182493.3(MYLK3):c.2329G>A (p.Ala777Thr)	MYLK3 (A777T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895845	NM_182493.3(MYLK3):c.2319G>C (p.Leu773Phe)	MYLK3 (L432F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967225	NM_182493.3(MYLK3):c.2304G>A (p.Glu768=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634637	NM_182493.3(MYLK3):c.2303A>C (p.Glu768Ala)	MYLK3 (E427A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2254182	NM_182493.3(MYLK3):c.2302G>C (p.Glu768Gln)	MYLK3 (E427Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104056	NM_182493.3(MYLK3):c.2302G>A (p.Glu768Lys)	MYLK3 (E768K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589659	NM_182493.3(MYLK3):c.2301C>T (p.His767=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759039	NM_182493.3(MYLK3):c.2279_2296del (p.Ser760_Leu765del)	MYLK3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2777634	NM_182493.3(MYLK3):c.2292C>T (p.Cys764=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036834	NM_182493.3(MYLK3):c.2291G>A (p.Cys764Tyr)	MYLK3 (C764Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303063	NM_182493.3(MYLK3):c.2285C>T (p.Thr762Ile)	MYLK3 (T421I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2756843	NM_182493.3(MYLK3):c.2268C>G (p.Ser756Arg)	MYLK3 (S415R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516670	NM_182493.3(MYLK3):c.2268-2A>C	MYLK3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2844171	NM_182493.3(MYLK3):c.2268-3C>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004631	NM_182493.3(MYLK3):c.2268-10G>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018907	NM_182493.3(MYLK3):c.2268-15T>C	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629904	NM_182493.3(MYLK3):c.2268-16C>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575118	NM_182493.3(MYLK3):c.2268-16C>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935629	NM_182493.3(MYLK3):c.2267+10A>T	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593411	NM_182493.3(MYLK3):c.2267+5C>G	MYLK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111295	NM_182493.3(MYLK3):c.2260G>A (p.Glu754Lys)	MYLK3 (E413K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907000	NM_182493.3(MYLK3):c.2254G>A (p.Val752Ile)	MYLK3 (V411I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702172	NM_182493.3(MYLK3):c.2253G>C (p.Leu751=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168197	NM_182493.3(MYLK3):c.2246G>A (p.Arg749Gln)	MYLK3 (R408Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353353	NM_182493.3(MYLK3):c.2245C>T (p.Arg749Trp)	MYLK3 (R749W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464996	NM_182493.3(MYLK3):c.2243C>G (p.Ser748Cys)	MYLK3 (S748C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873404	NM_182493.3(MYLK3):c.2239G>C (p.Val747Leu)	MYLK3 (V406L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097052	NM_182493.3(MYLK3):c.2235C>T (p.Asp745=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474786	NM_182493.3(MYLK3):c.2231A>G (p.Lys744Arg)	MYLK3 (K744R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474207	NM_182493.3(MYLK3):c.2225A>C (p.Glu742Ala)	MYLK3 (E742A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072155	NM_182493.3(MYLK3):c.2220G>A (p.Ser740=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443620	NM_182493.3(MYLK3):c.2219C>T (p.Ser740Leu)	MYLK3 (S740L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594408	NM_182493.3(MYLK3):c.2214G>A (p.Gly738=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718340	NM_182493.3(MYLK3):c.2212G>C (p.Gly738Arg)	MYLK3 (G397R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707250	NM_182493.3(MYLK3):c.2208T>A (p.Phe736Leu)	MYLK3 (F395L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441110	NM_182493.3(MYLK3):c.2204C>T (p.Thr735Ile)	MYLK3 (T735I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366002	NM_182493.3(MYLK3):c.2204C>G (p.Thr735Ser)	MYLK3 (T394S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932713	NM_182493.3(MYLK3):c.2202C>A (p.Asp734Glu)	MYLK3 (D734E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920700	NM_182493.3(MYLK3):c.2202C>T (p.Asp734=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951735	NM_182493.3(MYLK3):c.2196T>C (p.Asp732=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503448	NM_182493.3(MYLK3):c.2185T>C (p.Trp729Arg)	MYLK3 (W388R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417047	NM_182493.3(MYLK3):c.2180G>A (p.Cys727Tyr)	MYLK3 (C386Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442215	NM_182493.3(MYLK3):c.2176A>C (p.Asn726His)	MYLK3 (N385H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1524580	NM_182493.3(MYLK3):c.2171T>C (p.Ile724Thr)	MYLK3 (I724T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1963824	NM_182493.3(MYLK3):c.2169C>T (p.Phe723=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555801	NM_182493.3(MYLK3):c.2166T>C (p.Asn722=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972221	NM_182493.3(MYLK3):c.2164A>G (p.Asn722Asp)	MYLK3 (N381D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449298	NM_182493.3(MYLK3):c.2162T>G (p.Met721Arg)	MYLK3 (M380R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399077	NM_182493.3(MYLK3):c.2144A>G (p.Glu715Gly)	MYLK3 (E374G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848529	NM_182493.3(MYLK3):c.2143G>A (p.Glu715Lys)	MYLK3 (E374K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834756	NM_182493.3(MYLK3):c.2140G>A (p.Gly714Arg)	MYLK3 (G373R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966798	NM_182493.3(MYLK3):c.2132C>T (p.Pro711Leu)	MYLK3 (P711L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370528	NM_182493.3(MYLK3):c.2131C>G (p.Pro711Ala)	MYLK3 (P711A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585343	NM_182493.3(MYLK3):c.2124C>A (p.Gly708=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168379	NM_182493.3(MYLK3):c.2116C>G (p.Leu706Val)	MYLK3 (L706V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516022	NM_182493.3(MYLK3):c.2115A>T (p.Leu705=)	MYLK3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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