"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYO6"[gen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227673	NM_004999.4(MYO6):c.188-3T>C	MYO6	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45164	NM_004999.4(MYO6):c.553+11T>C	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2637184	NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)	MYO6 (R200* +1 more)	Single nucleotide variant (nonsense +1 more)	MYO6-related disorder	GPathogenic
Select item 1518752	NM_004999.4(MYO6):c.614G>A (p.Arg205Gln)	MYO6 (R200Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 45167	NM_004999.4(MYO6):c.875T>C (p.Leu292Ser)	MYO6 (L292S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 45131	NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)	MYO6 (A342V +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 259603	NM_004999.4(MYO6):c.1078+19dup	MYO6	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
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 259604	NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn)	MYO6 (D382N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2630446	NM_004999.4(MYO6):c.1238T>C (p.Val413Ala)	MYO6 (V408A +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 2633571	NM_004999.4(MYO6):c.1441CAA[1] (p.Gln482del)	MYO6 (Q477del +1 more)	Microsatellite (inframe_deletion +1 more)	MYO6-related disorder	GUncertain significance
Select item 45140	NM_004999.4(MYO6):c.1722C>T (p.Asp574=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GBenign/Likely benign
Select item 2628977	NM_004999.4(MYO6):c.1772C>T (p.Thr591Ile)	MYO6 (T586I +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 1323316	NM_004999.4(MYO6):c.1983+1G>A	MYO6	Single nucleotide variant (splice donor variant)	MYO6-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2636482	NM_004999.4(MYO6):c.2135A>G (p.His712Arg)	MYO6 (H707R +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 259605	NM_004999.4(MYO6):c.2517T>C (p.Gly839=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 22 +3 more	GConflicting classifications of pathogenicity
Select item 45144	NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile)	MYO6 (T845I +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2630378	NM_004999.4(MYO6):c.2585A>G (p.Asp862Gly)	MYO6 (D857G +1 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 45146	NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)	MYO6 (D879N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 45147	NM_004999.4(MYO6):c.2658+17C>T	MYO6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 523937	NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	MYO6 (Q918fs +1 more)	Duplication (frameshift variant +1 more)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 3030827	NM_004999.4(MYO6):c.2755C>T (p.Gln919Ter)	MYO6 (Q914* +1 more)	Single nucleotide variant (nonsense +1 more)	MYO6-related disorder	GLikely pathogenic
Select item 164639	NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)	MYO6 (R946C +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 3054242	NM_004999.4(MYO6):c.2946+8C>T	MYO6	Single nucleotide variant (intron variant)	MYO6-related disorder	GLikely benign
Select item 3051478	NM_004999.4(MYO6):c.2947-4T>C	MYO6	Single nucleotide variant (intron variant)	MYO6-related disorder	GLikely benign
Select item 45151	NM_004999.4(MYO6):c.2982G>A (p.Glu994=)	MYO6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1723638	NM_004999.4(MYO6):c.3137+1G>A	MYO6	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2629122	NM_004999.4(MYO6):c.3506G>T (p.Arg1169Leu)	MYO6 (R1137L +5 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 289702	NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)	MYO6 (R1177H +5 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 45159	NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn)	MYO6 (D1223N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2631305	NM_004999.4(MYO6):c.3821C>T (p.Thr1274Ile)	MYO6 (T1242I +5 more)	Single nucleotide variant (missense variant +1 more)	MYO6-related disorder	GUncertain significance
Select item 45130	NM_004999.4(MYO6):c.*12C>T	MYO6	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign

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Items: 32