C1838263[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687525	NM_016239.4(MYO15A):c.581G>A (p.Arg194His)	MYO15A (R194H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1301975	NM_016239.4(MYO15A):c.900del (p.Pro301fs)	MYO15A (P301fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 228372	NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)	MYO15A (E396fs)	Duplication	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GPathogenic
Select item 1687517	NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs)	MYO15A (P402fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 2572402	NM_016239.4(MYO15A):c.1657del (p.Arg553fs)	MYO15A (R553fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1687328	NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter)	MYO15A (E620*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 3	GLikely pathogenic
Select item 620344	NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)	MYO15A (Q807*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 803332	NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)	MYO15A (S1176fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1687480	NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly)	MYO15A (C1310G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1526222	NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr)	MYO15A (H1410Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	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 322162	NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val)	MYO15A (A2516V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311601	NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro)	MYO15A (R2850P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GUncertain significance
Select item 1705583	NM_016239.4(MYO15A):c.8601+2T>G	MYO15A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687502	NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg)	MYO15A (G3173R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 2444220	NM_016239.4(MYO15A):c.9518-2A>G	MYO15A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 3 +1 more	GPathogenic
Select item 869466	NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)	MYO15A (S3417del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 3 +2 more	GPathogenic/Likely pathogenic
Select item 1687546	NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs)	MYO15A (L3493fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance