"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226777	NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)	MYO15A (G462D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +3 more	GBenign/Likely benign
Select item 195315	NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)	MYO15A (A595T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 226778	NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 226779	NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)	MYO15A (W718G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 505802	NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)	MYO15A (R1129*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 770263	NM_016239.4(MYO15A):c.4038+8GT[25]	MYO15A	Microsatellite (intron variant)	not provided	GBenign
Select item 1297622	NM_016239.4(MYO15A):c.4666G>A (p.Ala1556Thr)	MYO15A (A1556T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 178443	NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)	MYO15A (R1763W)	Single nucleotide variant (missense variant)	MYO15A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 45751	NM_016239.4(MYO15A):c.5826-12A>C	MYO15A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 203364	NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)	MYO15A (W1975*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 45753	NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)	MYO15A (C1977R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 417946	NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)	MYO15A (R2194W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 289237	NM_016239.4(MYO15A):c.6764+2T>A	MYO15A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 504632	NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)	MYO15A (G2263S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 164552	NM_016239.4(MYO15A):c.7893+1G>A	MYO15A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 45764	NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)	MYO15A (V2697A)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 1297693	NM_016239.4(MYO15A):c.10082+1G>A	MYO15A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic