"Ambry Genetics"[submitter] AND "MYLK3"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2308505	NM_182493.3(MYLK3):c.1915C>G (p.Pro639Ala)	MYLK3 (P298A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412778	NM_182493.3(MYLK3):c.1864G>A (p.Glu622Lys)	MYLK3 (E281K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2360378	NM_182493.3(MYLK3):c.1821C>A (p.His607Gln)	MYLK3 (H266Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933576	NM_182493.3(MYLK3):c.1732G>A (p.Ala578Thr)	MYLK3 (A237T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2257329	NM_182493.3(MYLK3):c.1687A>G (p.Ile563Val)	MYLK3 (I222V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1467427	NM_182493.3(MYLK3):c.1678G>A (p.Glu560Lys)	MYLK3 (E219K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2530009	NM_182493.3(MYLK3):c.1661G>C (p.Arg554Pro)	MYLK3 (R554P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221525	NM_182493.3(MYLK3):c.1651G>A (p.Ala551Thr)	MYLK3 (A210T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1517633	NM_182493.3(MYLK3):c.1541A>T (p.Glu514Val)	MYLK3 (E514V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1407388	NM_182493.3(MYLK3):c.1471C>A (p.Pro491Thr)	MYLK3 (P491T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1373040	NM_182493.3(MYLK3):c.1453G>A (p.Val485Met)	MYLK3 (V144M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1421113	NM_182493.3(MYLK3):c.1390G>A (p.Ala464Thr)	MYLK3 (A123T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2488743	NM_182493.3(MYLK3):c.1314C>G (p.His438Gln)	MYLK3 (H438Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507961	NM_182493.3(MYLK3):c.1298G>A (p.Ser433Asn)	MYLK3 (S433N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2358651	NM_182493.3(MYLK3):c.1277C>T (p.Thr426Met)	MYLK3 (T85M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2192803	NM_182493.3(MYLK3):c.1267G>A (p.Glu423Lys)	MYLK3 (E82K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2323496	NM_182493.3(MYLK3):c.1250A>C (p.Glu417Ala)	MYLK3 (E76A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606481	NM_182493.3(MYLK3):c.1249G>A (p.Glu417Lys)	MYLK3 (E417K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1404500	NM_182493.3(MYLK3):c.1205C>T (p.Pro402Leu)	MYLK3 (P402L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1491860	NM_182493.3(MYLK3):c.1151C>T (p.Ala384Val)	MYLK3 (A384V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1644307	NM_182493.3(MYLK3):c.1015A>C (p.Ile339Leu)	MYLK3 (I339L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414867	NM_182493.3(MYLK3):c.709C>G (p.Pro237Ala)	MYLK3 (P237A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1357616	NM_182493.3(MYLK3):c.570G>C (p.Glu190Asp)	MYLK3 (E190D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2297855	NM_182493.3(MYLK3):c.433C>A (p.Arg145Ser)	MYLK3 (R145S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2290574	NM_182493.3(MYLK3):c.350T>C (p.Met117Thr)	MYLK3 (M117T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1431592	NM_182493.3(MYLK3):c.334G>C (p.Glu112Gln)	MYLK3 (E112Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2262717	NM_182493.3(MYLK3):c.237T>G (p.Asp79Glu)	MYLK3 (D79E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414545	NM_182493.3(MYLK3):c.184C>T (p.Arg62Trp)	MYLK3 (R62W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1624880	NM_182493.3(MYLK3):c.164G>A (p.Arg55Gln)	MYLK3 (R55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2168688	NM_182493.3(MYLK3):c.35G>A (p.Gly12Glu)	MYLK3 (G12E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 38