Related gene-specific medical variations for Gene (Select 4649) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067936	NM_006901.4(MYO9A):c.5701C>T (p.Arg1901Trp)	MYO9A (R1901W)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 3067913	NM_006901.4(MYO9A):c.2375A>C (p.Gln792Pro)	MYO9A (Q792P)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2689517	NM_006901.4(MYO9A):c.4745C>T (p.Ala1582Val)	MYO9A (A1582V)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2433981	NM_006901.4(MYO9A):c.7216G>C (p.Ala2406Pro)	MYO9A (A2406P)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2433980	NM_006901.4(MYO9A):c.3406C>G (p.Gln1136Glu)	MYO9A (Q1136E)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2428542	NM_006901.4(MYO9A):c.4538T>C (p.Met1513Thr)	MYO9A (M1513T)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2409490	NM_006901.4(MYO9A):c.5309A>C (p.Lys1770Thr)	LOC130057457, MYO9A (K1770T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373534	NM_006901.4(MYO9A):c.5348C>T (p.Ser1783Leu)	LOC130057457, MYO9A (S1783L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344827	NM_006901.4(MYO9A):c.1166C>T (p.Thr389Met)	MYO9A (T389M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1344825	NM_006901.4(MYO9A):c.467A>G (p.Asp156Gly)	MYO9A (D156G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1031103	NM_006901.4(MYO9A):c.5350C>T (p.Pro1784Ser)	LOC130057457, MYO9A (P1784S)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 796962	NM_006901.4(MYO9A):c.5352A>T (p.Pro1784=)	LOC130057457, MYO9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776925	NM_006901.4(MYO9A):c.5383C>T (p.His1795Tyr)	LOC130057457, MYO9A (H1795Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711630	NM_006901.4(MYO9A):c.5300G>A (p.Gly1767Glu)	LOC130057457, MYO9A (G1767E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686724	GRCh37/hg19 15q23(chr15:72194247-72249034)x1	MYO9A	Copy number loss	not provided	GPathogenic