C1844678[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Rare genetic deafness +10 more	GConflicting classifications of pathogenicity
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GUncertain significance
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +11 more	GPathogenic
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Rare genetic deafness +11 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Deafness +14 more	GPathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	Knuckle pads, deafness AND leukonychia syndrome +11 more	GPathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GPathogenic/Likely pathogenic
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 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	not provided +14 more	GPathogenic/Likely pathogenic
Select item 5545	NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	GJB6 (A88V)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GPathogenic
Select item 5544	NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	GJB6 (G11R)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +6 more	GPathogenic
Select item 11678	NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)	POU3F4 (K202*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11677	NM_000307.5(POU3F4):c.648del (p.Leu217fs)	POU3F4 (L217fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11681	NM_000307.5(POU3F4):c.862_865del (p.Val289fs)	POU3F4 (V289fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 156303	NM_000307.5(POU3F4):c.896del (p.Lys299fs)	POU3F4 (K299fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11682	NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)	POU3F4 (A312V)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 41457	NM_000307.5(POU3F4):c.950dup (p.Leu317fs)	POU3F4 (L317fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11679	NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)	POU3F4 (L317W)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11684	NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)	POU3F4 (R323G)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11683	NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)	POU3F4 (R330S)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 11680	NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	POU3F4 (K334E)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 41458	NM_000307.5(POU3F4):c.1060del (p.Thr354fs)	POU3F4 (T354fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic

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Items: 29