C5680182[trait identifier] AND "INGEBI, INGEBI / CONICET"[submitter] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48355	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A (T3571M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +7 more	GPathogenic/Likely pathogenic
Select item 48476	NM_206933.4(USH2A):c.1841-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	USH2A-related disorder +5 more	GPathogenic
Select item 1185590	NM_015340.4(LARS2):c.1481dup (p.Leu495fs)	LARS2, LARS2-AS1 (L495fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 55872	NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)	LARS2 (T629M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 995923	NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	MITF (R231* +9 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 166606	NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)	WFS1 (E776V)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 4526	NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	WFS1 (E864K)	Single nucleotide variant (missense variant)	Wolfram-like syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1185588	NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu)	MYO6 (F642L +1 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 1185589	NM_004100.5(EYA4):c.580+2T>C	EYA4	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 228555	NM_004403.3(GSDME):c.119dup (p.Lys41fs)	GSDME (K41fs)	Duplication	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44114	NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)	CDH23 (A366T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 228484	NM_022124.6(CDH23):c.1515-12G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 1073929	NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter)	MYO7A (Q234* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +1 more	GPathogenic
Select item 43143	NM_000260.4(MYO7A):c.1344-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +5 more	GPathogenic
Select item 7022	NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)	TBCEL-TECTA, TECTA (R1890C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 975153	NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)	GJB2 (C211Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Mutilating keratoderma +12 more	GPathogenic/Likely pathogenic
Select item 978418	NM_004004.6(GJB2):c.569T>A (p.Val190Asp)	GJB2 (V190D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
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 44756	NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)	GJB2 (K168R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 424854	NM_004004.6(GJB2):c.487A>C (p.Met163Leu)	GJB2 (M163L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 21388	NM_004004.6(GJB2):c.487A>G (p.Met163Val)	GJB2 (M163V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GConflicting classifications of pathogenicity
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +7 more	GConflicting classifications of pathogenicity
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 371709	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	GJB2 (E147K)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic
Select item 44747	NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)	GJB2 (E129K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 44746	NM_004004.6(GJB2):c.384C>T (p.Ile128=)	GJB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1326933	NM_004004.6(GJB2):c.382A>G (p.Ile128Val)	GJB2 (I128V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
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 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 975154	NM_004004.6(GJB2):c.326G>T (p.Gly109Val)	GJB2 (G109V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GPathogenic/Likely pathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	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)	Rare genetic 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 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 188756	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	GJB2 (I82M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 553568	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2 (A78fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 975155	NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)	GJB2 (A78S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 17027	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2 (R75Q)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic
Select item 17011	NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	GJB2 (R75W)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 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)	Rare genetic deafness +11 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 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 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign
Select item 371766	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	GJB2 (I20T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 21389	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	GJB2 (S19T)	Single nucleotide variant (missense variant)	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)	Rare genetic deafness +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 978417	NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)	GJB2 (L10P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 192228	NM_004004.6(GJB2):c.24G>A (p.Thr8=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 379889	NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	GJB2 (T8M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 94388	NM_004004.6(GJB2):c.-15C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified +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 44717	NM_004004.6(GJB2):c.-22-12C>T	GJB2	Single nucleotide variant (intron variant)	Ichthyosis, hystrix-like, with hearing loss +5 more	GBenign
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +14 more	GPathogenic/Likely pathogenic
Select item 978790	Single allele	CRYL1, GJB6	Deletion	Nonsyndromic genetic hearing loss	GPathogenic
Select item 978789	Single allele	CRYL1, GJB6	Deletion	Nonsyndromic genetic hearing loss	GPathogenic
Select item 2582670	NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)	STRC (R344*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 18316	NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)	ACTG1 (K118M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 178396	NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	LOXHD1 (R1494* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +4 more	GPathogenic/Likely pathogenic
Select item 46102	NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	TMPRSS3 (A426T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1185592	NM_001256317.3(TMPRSS3):c.242C>G (p.Ser81Ter)	TMPRSS3 (S81*)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic genetic hearing loss	GPathogenic
Select item 1185594	NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser)	COL4A5 (P395S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185595	NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser)	COL4A5 (P587S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance

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Items: 71