C5680182[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21834	NM_194248.3(OTOF):c.2348del (p.Gly783fs)	OTOF (G783fs +2 more)	Deletion (frameshift variant)	Rare genetic deafness +4 more	GPathogenic
Select item 21831	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	OTOF (R708*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 3068575	NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)	LHFPL5 (P47T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
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 3068632	NM_000260.4(MYO7A):c.5169-6C>A	MYO7A	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 6956	NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)	MYO15A (T2205I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46119	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	TMPRSS3 (A138E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 165492	NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	TMPRSS3 (H70fs)	Deletion (frameshift variant +1 more)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic