"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYO15A"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322105	NM_016239.4(MYO15A):c.-144G>A	MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 228948	NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del)	MYO15A	Deletion	not provided +1 more	GUncertain significance
Select item 1315024	NM_016239.4(MYO15A):c.530G>T (p.Gly177Val)	MYO15A (G177V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GUncertain significance
Select item 1675660	NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala)	MYO15A (E258A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 505185	NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)	MYO15A (Y332*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 1254646	NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg)	MYO15A (P725R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505802	NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)	MYO15A (R1129*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GPathogenic/Likely pathogenic
Select item 892443	NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val)	MYO15A (M1227V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1312626	NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser)	MYO15A (G1318S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632271	NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)	MYO15A (V1400M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 517638	NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)	MYO15A (Y1437C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504630	NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)	MYO15A (E1499D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 1428227	NM_016239.4(MYO15A):c.4779+5G>A	MYO15A	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GUncertain significance
Select item 1482079	NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met)	MYO15A (V1825M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 322150	NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His)	MYO15A (R1868H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 164532	NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)	MYO15A (R1956W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 228373	NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)	MYO15A (R1966*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 451628	NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg)	MYO15A (G2110R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 946446	NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)	MYO15A (R2124Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1351121	NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu)	MYO15A (W2274L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333531	NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs)	MYO15A (D2289fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 45758	NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 164554	NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)	MYO15A (E2724K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 505250	NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His)	MYO15A (R2817H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GUncertain significance
Select item 164557	NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)	MYO15A (R2903Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1691143	NM_016239.4(MYO15A):c.8968-1G>T	MYO15A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 889325	NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser)	MYO15A (P3023S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 666995	NM_016239.4(MYO15A):c.9517+2T>C	MYO15A	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 506014	NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr)	MYO15A (C3229Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GUncertain significance
Select item 817371	NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)	MYO15A (I3256fs)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic
Select item 504637	NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)	MYO15A (Q3365R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 322182	NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=)	MYO15A	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GConflicting classifications of pathogenicity
Select item 6961	NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)	MYO15A (S3525fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic/Likely pathogenic

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Items: 33