"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYO6"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45164	NM_004999.4(MYO6):c.553+11T>C	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 164634	NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)	MYO6 (R276* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +4 more	GConflicting classifications of pathogenicity
Select item 45133	NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)	MYO6 (Y374H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 45137	NM_004999.4(MYO6):c.1546+7_1546+8del	MYO6	Microsatellite (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1678016	NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)	MYO6 (P531L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +2 more	GUncertain significance
Select item 1064948	NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)	MYO6 (F675S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 45147	NM_004999.4(MYO6):c.2658+17C>T	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 504988	NM_004999.4(MYO6):c.2837G>A (p.Arg946His)	MYO6 (R946H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 911844	NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)	MYO6 (R986L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity