"MYO9A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630753	NM_006901.4(MYO9A):c.7530G>C (p.Gln2510His)	MYO9A (Q2510H)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GUncertain significance
Select item 3033672	NM_006901.4(MYO9A):c.7184-8dup	MYO9A	Duplication (intron variant)	MYO9A-related disorder	GLikely benign
Select item 1252587	NM_006901.4(MYO9A):c.7168A>G (p.Ile2390Val)	MYO9A (I2390V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3046947	NM_006901.4(MYO9A):c.6999G>A (p.Glu2333=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 1707289	NM_006901.4(MYO9A):c.5912C>T (p.Ser1971Leu)	MYO9A (S1971L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 796851	NM_006901.4(MYO9A):c.5834T>C (p.Leu1945Pro)	MYO9A (L1945P)	Single nucleotide variant (missense variant)	MYO9A-related disorder +1 more	GLikely benign
Select item 3039905	NM_006901.4(MYO9A):c.5592A>G (p.Leu1864=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 776923	NM_006901.4(MYO9A):c.5553A>G (p.Gln1851=)	MYO9A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3057042	NM_006901.4(MYO9A):c.5500C>T (p.Arg1834Cys)	MYO9A (R1834C)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GBenign
Select item 3051380	NM_006901.4(MYO9A):c.5500C>A (p.Arg1834Ser)	MYO9A (R1834S)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GLikely benign
Select item 3044933	NM_006901.4(MYO9A):c.5445C>T (p.Pro1815=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 590982	NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)	MYO9A (D1698G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3043472	NM_006901.4(MYO9A):c.5001G>A (p.Arg1667=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 775356	NM_006901.4(MYO9A):c.4535T>C (p.Met1512Thr)	MYO9A (M1512T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 774942	NM_006901.4(MYO9A):c.4427C>G (p.Pro1476Arg)	MYO9A (P1476R)	Single nucleotide variant (missense variant)	MYO9A-related disorder +1 more	GBenign
Select item 3033766	NM_006901.4(MYO9A):c.4293A>G (p.Thr1431=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 3037532	NM_006901.4(MYO9A):c.4084T>C (p.Ser1362Pro)	MYO9A (S1362P)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GBenign
Select item 1225670	NM_006901.4(MYO9A):c.3578G>A (p.Gly1193Glu)	MYO9A (G1193E)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +2 more	GBenign
Select item 3051543	NM_006901.4(MYO9A):c.3470+10A>G	MYO9A	Single nucleotide variant (intron variant)	MYO9A-related disorder	GLikely benign
Select item 2465890	NM_006901.4(MYO9A):c.3293G>C (p.Arg1098Pro)	MYO9A (R1098P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 733376	NM_006901.4(MYO9A):c.2303G>A (p.Ser768Asn)	MYO9A (S768N)	Single nucleotide variant (missense variant)	MYO9A-related disorder +2 more	GBenign/Likely benign
Select item 1344826	NM_006901.4(MYO9A):c.2295G>C (p.Glu765Asp)	MYO9A (E765D)	Single nucleotide variant (missense variant)	MYO9A-related disorder	GUncertain significance
Select item 2398081	NM_006901.4(MYO9A):c.2136G>A (p.Met712Ile)	MYO9A (M712I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 758508	NM_006901.4(MYO9A):c.1845-8T>A	MYO9A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 719417	NM_006901.4(MYO9A):c.1574A>T (p.Glu525Val)	MYO9A (E525V)	Single nucleotide variant (missense variant)	MYO9A-related disorder +1 more	GLikely benign
Select item 3057786	NM_006901.4(MYO9A):c.570G>A (p.Lys190=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder	GLikely benign
Select item 710371	NM_006901.4(MYO9A):c.183T>C (p.Tyr61=)	MYO9A	Single nucleotide variant (synonymous variant)	MYO9A-related disorder +1 more	GLikely benign

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Items: 27