"PreventionGenetics, part of Exact Sciences"[submitter] AND "GJB2"[gen - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GBenign
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 225375	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2 (M195V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 371768	NM_004004.6(GJB2):c.575_576del (p.Thr192fs)	GJB2 (T192fs)	Microsatellite (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 560670	NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)	GJB2 (E187G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Ear malformation +11 more	GPathogenic/Likely pathogenic
Select item 633243	NM_004004.6(GJB2):c.510C>T (p.Asn170=)	GJB2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GBenign/Likely benign
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign/Likely benign
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GBenign/Likely benign
Select item 17036	NM_004004.6(GJB2):c.250G>A (p.Val84Met)	GJB2 (V84M)	Single nucleotide variant (missense variant)	GJB2-related disorder +4 more	GPathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GBenign/Likely benign
Select item 188756	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	GJB2 (I82M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Rare genetic deafness +13 more	GPathogenic
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44766	NM_004004.6(GJB2):c.95G>A (p.Arg32His)	GJB2 (R32H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GPathogenic
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 44738	NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	GJB2 (G11fs)	Deletion	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GPathogenic/Likely pathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 371781	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	GJB2 (M1T)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44721	NM_004004.6(GJB2):c.-6T>A	GJB2	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +5 more	GConflicting classifications of pathogenicity
Select item 94388	NM_004004.6(GJB2):c.-15C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	Nonsyndromic genetic hearing loss +5 more	GBenign/Likely benign
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GConflicting classifications of pathogenicity
Select item 44717	NM_004004.6(GJB2):c.-22-12C>T	GJB2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 259214	NM_004004.6(GJB2):c.-22-35G>T	GJB2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 44718	NM_004004.6(GJB2):c.-23+12G>A	GJB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +15 more	GPathogenic/Likely pathogenic
Select item 3032755	NC_000013.11:g.20193014G>A	GJB2	Single nucleotide variant	GJB2-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35