C1384666[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434131	NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)	ALMS1 (T3155S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 211401	NM_004525.3(LRP2):c.7715+3A>T	LRP2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 356872	NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	POLR1C (M65V)	Single nucleotide variant (missense variant)	POLR1C-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 158308	NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)	CHD7 (S2084G)	Single nucleotide variant (missense variant +1 more)	Ventricular septal defect +4 more	GConflicting classifications of pathogenicity
Select item 363473	NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)	CHD7 (N2118S)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	TYR-related condition +8 more	GPathogenic/Likely pathogenic
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	GJB2-related condition +3 more	GPathogenic/Likely pathogenic
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +12 more	GPathogenic/Likely pathogenic
Select item 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +6 more	GPathogenic/Likely pathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	GJB2-related condition +12 more	GPathogenic
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 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Hearing impairment +11 more	GPathogenic
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Nonsyndromic genetic hearing loss +5 more	GPathogenic/Likely pathogenic
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic/Likely pathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +14 more	GConflicting classifications of pathogenicity
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 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 158606	NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)	GJB2 (C53Y)	Single nucleotide variant (missense variant)	Hearing impairment	GPathogenic
Select item 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher +11 more	GPathogenic
Select item 158605	NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 158604	NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	GJB2 (L36P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
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 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 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	not provided +11 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 44740	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2 (G12C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 1A +15 more	GPathogenic/Likely pathogenic

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Items: 32