C1844678[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882590	NM_004004.6(GJB2):c.*115A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +8 more	GBenign
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	not provided +10 more	GBenign
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GConflicting classifications of pathogenicity
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +10 more	GBenign/Likely benign
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GConflicting classifications of pathogenicity
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GBenign/Likely benign
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Hearing impairment +11 more	GPathogenic
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	GJB2-related condition +11 more	GBenign/Likely benign
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 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Ichthyosis, hystrix-like, with hearing loss +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 883513	NM_004004.6(GJB2):c.-1G>A	GJB2	Single nucleotide variant (5 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
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 163525	NM_004004.6(GJB2):c.-216T>G	GJB2	Single nucleotide variant	Ichthyosis, hystrix-like, with hearing loss +9 more	GBenign/Likely benign
Select item 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GBenign/Likely benign
Select item 178629	NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)	POU3F4 (P47S)	Single nucleotide variant (missense variant)	POU3F4-related condition +3 more	GBenign/Likely benign
Select item 913161	NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)	POU3F4 (L131F)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913162	NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	POU3F4 (S177L)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913163	NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 368732	NM_000307.5(POU3F4):c.753G>A (p.Leu251=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 914300	NM_000307.5(POU3F4):c.*22C>G	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher +1 more	GBenign/Likely benign
Select item 368733	NM_000307.5(POU3F4):c.*41C>A	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 368734	NM_000307.5(POU3F4):c.*105C>T	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely benign
Select item 368735	NM_000307.5(POU3F4):c.*141T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 368736	NM_000307.5(POU3F4):c.*192T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 914803	NM_000307.5(POU3F4):c.*297T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance

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Items: 30