ClinVar for MedGen (Select 816500) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393408	NM_002160.4(TNC):c.2447A>G (p.Asp816Gly)	TNC (D816G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3393391	NM_002160.4(TNC):c.3047G>A (p.Arg1016His)	TNC (R1016H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3391819	NM_002160.4(TNC):c.3295_3297delinsAAT (p.Gln1099Asn)	TNC (Q1099N)	Indel (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3367120	NM_002160.4(TNC):c.848T>C (p.Leu283Pro)	TNC (L283P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3366995	NM_002160.4(TNC):c.3442A>G (p.Ile1148Val)	TNC (I1148V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3250407	NM_002160.4(TNC):c.323G>A (p.Arg108His)	TNC (R108H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GLikely pathogenic
Select item 3237485	NM_002160.4(TNC):c.4079G>A (p.Trp1360Ter)	TNC (W1269* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3234848	NM_002160.4(TNC):c.1973C>A (p.Pro658His)	TNC (P658H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 3180122	NM_002160.4(TNC):c.2941G>A (p.Ala981Thr)	TNC (A981T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GConflicting classifications of pathogenicity
Select item 2775398	NM_002160.4(TNC):c.5247A>T (p.Gly1749=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56	GPathogenic
Select item 2673188	NM_002160.4(TNC):c.5978C>T (p.Thr1993Met)	TNC (T1811M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GConflicting classifications of pathogenicity
Select item 2664067	NM_002160.4(TNC):c.2192A>C (p.Glu731Ala)	TNC (E731A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 2441982	NM_002160.4(TNC):c.4490G>C (p.Gly1497Ala)	TNC (G1406A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 2437128	NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)	TNC (V1716I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 2437127	NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)	TNC (G335A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 2437126	NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)	TNC (E1994G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 2437125	NM_002160.4(TNC):c.1622G>A (p.Arg541His)	TNC (R541H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 1806244	NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)	TNC (K812E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 1286998	NM_002160.4(TNC):c.2951-43T>C	TNC	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 1281223	NM_002160.4(TNC):c.2039A>G (p.Gln680Arg)	TNC (Q680R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1280191	NM_002160.4(TNC):c.696A>G (p.Val232=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1277307	NM_002160.4(TNC):c.2248-32C>T	TNC	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 1263176	NM_002160.4(TNC):c.2131+38T>C	TNC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259794	NM_002160.4(TNC):c.6022G>C (p.Glu2008Gln)	TNC (E2008Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1259178	NM_002160.4(TNC):c.1616A>G (p.Gln539Arg)	TNC (Q539R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1246042	NM_002160.4(TNC):c.276G>A (p.Val92=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 1245412	NM_002160.4(TNC):c.1867+31T>A	TNC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1244857	NM_002160.4(TNC):c.4575G>A (p.Thr1525=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 1238979	NM_002160.4(TNC):c.5029A>T (p.Ile1677Leu)	TNC (I1677L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 1229413	NM_002160.4(TNC):c.2049G>A (p.Glu683=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1033486	NM_002160.4(TNC):c.2795G>C (p.Gly932Ala)	TNC (G932A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 1029565	NM_002160.4(TNC):c.2239C>T (p.Arg747Trp)	TNC (R747W)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GUncertain significance
Select item 1029564	NM_002160.4(TNC):c.1580G>C (p.Cys527Ser)	TNC (C527S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 994555	NM_002160.4(TNC):c.61G>A (p.Glu21Lys)	TNC (E21K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +2 more	GBenign/Likely benign
Select item 930251	NM_002160.4(TNC):c.6496-18del	TNC	Deletion (intron variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 810407	NM_002160.4(TNC):c.3413C>T (p.Thr1138Met)	TNC (T1138M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 805677	NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)	TNC (V2167I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 805676	NM_002160.4(TNC):c.2562C>T (p.Asp854=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 805675	NM_002160.4(TNC):c.2389A>C (p.Arg797=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 805674	NM_002160.4(TNC):c.2374G>T (p.Gly792Cys)	TNC (G792C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GConflicting classifications of pathogenicity
Select item 805673	NM_002160.4(TNC):c.1813G>A (p.Val605Ile)	TNC (V605I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 789778	NM_002160.4(TNC):c.3375C>A (p.Ser1125Arg)	TNC (S1125R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 789777	NM_002160.4(TNC):c.5745C>A (p.Thr1915=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 788421	NM_002160.4(TNC):c.781G>A (p.Gly261Ser)	TNC (G261S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 786576	NM_002160.4(TNC):c.156C>T (p.His52=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 786575	NM_002160.4(TNC):c.637G>A (p.Gly213Ser)	TNC (G213S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 786574	NM_002160.4(TNC):c.1508G>A (p.Arg503Lys)	TNC (R503K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 784152	NM_002160.4(TNC):c.75C>G (p.Leu25=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 784151	NM_002160.4(TNC):c.2207A>G (p.Asp736Gly)	TNC (D736G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 784150	NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln)	TNC (R1118Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 784149	NM_002160.4(TNC):c.6006G>A (p.Leu2002=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 782147	NM_002160.4(TNC):c.4740C>T (p.Thr1580=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 776765	NM_002160.4(TNC):c.96G>A (p.Lys32=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 776446	NM_002160.4(TNC):c.945C>T (p.Cys315=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 776445	NM_002160.4(TNC):c.5193G>A (p.Arg1731=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 776444	NM_002160.4(TNC):c.6099C>T (p.Arg2033=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 773512	NM_002160.4(TNC):c.1642G>A (p.Val548Met)	TNC (V548M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 773511	NM_002160.4(TNC):c.5093G>A (p.Arg1698Gln)	TNC (R1698Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 752230	NM_002160.4(TNC):c.2120G>C (p.Arg707Thr)	TNC (R707T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 735144	NM_002160.4(TNC):c.2490C>T (p.Ile830=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 724494	NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro)	TNC (R1698P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 723838	NM_002160.4(TNC):c.1322A>G (p.Asn441Ser)	TNC (N441S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 721116	NM_002160.4(TNC):c.5223G>A (p.Arg1741=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 720440	NM_002160.4(TNC):c.6482A>G (p.Asn2161Ser)	TNC (N2161S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 716393	NM_002160.4(TNC):c.3286G>A (p.Ala1096Thr)	TNC (A1096T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 709861	NM_002160.4(TNC):c.3711G>A (p.Gly1237=)	TNC, LOC126860741	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 689600	NM_002160.4(TNC):c.2340G>T (p.Glu780Asp)	TNC (E780D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 637026	NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg)	TNC (Q2165R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 586836	NM_002160.4(TNC):c.6144G>A (p.Gly2048=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 586835	NM_002160.4(TNC):c.5341G>A (p.Ala1781Thr)	TNC (A1781T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 586834	NM_002160.4(TNC):c.3165C>T (p.Ala1055=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 586833	NM_002160.4(TNC):c.1719C>T (p.Cys573=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 560147	Single allele	DELEC1, PAPPA +2 more	Duplication	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 523449	NM_002160.4(TNC):c.890A>G (p.Asn297Ser)	TNC (N297S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +3 more	GUncertain significance
Select item 445719	NM_002160.4(TNC):c.2620A>G (p.Ile874Val)	TNC (I874V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 445486	NM_002160.4(TNC):c.628G>A (p.Gly210Ser)	TNC (G210S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 444776	NM_002160.4(TNC):c.2960C>T (p.Thr987Met)	TNC (T987M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252600	NM_002160.4(TNC):c.1342C>G (p.Arg448Gly)	TNC (R448G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +2 more	GBenign/Likely benign
Select item 97009	NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser)	TNC (T1796S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	Gno classifications from unflagged records
Select item 97008	NM_002160.4(TNC):c.5317G>A (p.Val1773Met)	TNC (V1773M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 80