"Eurofins Ntd Llc (ga)"[submitter] AND "MYO1A"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227659	NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)	MYO1A (Q1043R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 164579	NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)	MYO1A (S958G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164581	NM_005379.4(MYO1A):c.2724+7G>A	MYO1A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227658	NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)	MYO1A (M895T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 289301	NM_005379.4(MYO1A):c.2422G>A (p.Ala808Thr)	MYO1A (A808T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178620	NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)	MYO1A (S797F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 164587	NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)	MYO1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 164588	NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe)	MYO1A (I678F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 499788	NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)	MYO1A (R654Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 309913	NM_005379.4(MYO1A):c.1453A>G (p.Lys485Glu)	MYO1A (K485E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45307	NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu)	MYO1A (P426L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 8148	NM_005379.4(MYO1A):c.916G>A (p.Val306Met)	MYO1A (V306M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 287746	NM_005379.4(MYO1A):c.707A>G (p.Asp236Gly)	MYO1A (D236G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227661	NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)	MYO1A (R220W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 309921	NM_005379.4(MYO1A):c.340G>A (p.Val114Met)	LOC126861538, MYO1A (V114M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8146	NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	LOC126861538, MYO1A (R93*)	Single nucleotide variant (nonsense)	MYO1A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 287283	NM_005379.4(MYO1A):c.250G>A (p.Ala84Thr)	LOC126861538, MYO1A (A84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178458	NM_005379.4(MYO1A):c.92G>A (p.Arg31His)	MYO1A (R31H)	Single nucleotide variant (missense variant)	MYO1A-related condition +2 more	GConflicting classifications of pathogenicity