ClinVar for MedGen (Select 1648337) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 27

	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 2664911	NM_006901.4(MYO9A):c.4807G>A (p.Val1603Met)	MYO9A (V1603M)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2664910	NM_006901.4(MYO9A):c.6416G>A (p.Arg2139Gln)	MYO9A (R2139Q)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GUncertain significance
Select item 2580247	NM_006901.4(MYO9A):c.7224G>C (p.Lys2408Asn)	MYO9A (K2408N)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2580246	NM_006901.4(MYO9A):c.6419A>G (p.Asp2140Gly)	MYO9A (D2140G)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 2506585	NM_006901.4(MYO9A):c.2062A>G (p.Ile688Val)	MYO9A (I688V)	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 1676435	NM_006901.4(MYO9A):c.3001-2A>G	MYO9A	Single nucleotide variant (splice acceptor variant)	Myasthenic syndrome, congenital, 24, presynaptic	GLikely pathogenic
Select item 1289337	NM_006901.4(MYO9A):c.1253+24A>G	MYO9A	Single nucleotide variant (intron variant)	not provided +1 more	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 +1 more	GBenign
Select item 1223022	NM_006901.4(MYO9A):c.3771A>G (p.Arg1257=)	MYO9A	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GBenign
Select item 1213758	NM_006901.4(MYO9A):c.1658G>A (p.Cys553Tyr)	MYO9A (C553Y)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 1031104	NM_006901.4(MYO9A):c.5807C>T (p.Thr1936Met)	MYO9A (T1936M)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	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 1031102	NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser)	MYO9A (P1704S)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 1031101	NM_006901.4(MYO9A):c.3071T>C (p.Ile1024Thr)	MYO9A (I1024T)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 1031100	NM_006901.4(MYO9A):c.1573G>A (p.Glu525Lys)	MYO9A (E525K)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic	GUncertain significance
Select item 871413	NM_006901.4(MYO9A):c.6476-7dup	MYO9A	Duplication (intron variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GUncertain significance
Select item 791639	NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)	MYO9A (R2283H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 590982	NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)	MYO9A (D1698G)	Single nucleotide variant (missense variant)	MYO9A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 590980	NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His)	MYO9A (R1517H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590979	NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)	MYO9A (Y203C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590978	NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)	MYO9A (G2282E)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 24, presynaptic +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 27