Related gene-specific medical variations for Gene (Select 3371) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347500	NM_002160.4(TNC):c.3672G>C (p.Gly1224=)	LOC126860741, TNC	Single nucleotide variant (synonymous variant)	TNC-related disorder	GLikely benign
Select item 3327448	NM_002160.4(TNC):c.3514G>C (p.Val1172Leu)	LOC126860741, TNC (V1172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327439	NM_002160.4(TNC):c.3488G>C (p.Gly1163Ala)	LOC126860741, TNC (G1163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3180126	NM_002160.4(TNC):c.3773A>G (p.Asp1258Gly)	LOC126860741, TNC (D1258G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2659455	NM_002160.4(TNC):c.3637G>A (p.Val1213Ile)	LOC126860741, TNC (V1213I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2659452	NM_002160.4(TNC):c.5615G>C (p.Gly1872Ala)	LOC126860740, TNC (G1690A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2488122	NM_002160.4(TNC):c.5645A>C (p.Lys1882Thr)	LOC126860740, TNC (K1700T +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2429017	NM_002160.4(TNC):c.3592C>T (p.Gln1198Ter)	LOC126860741, TNC (Q1198*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2389133	NM_002160.4(TNC):c.3523G>A (p.Glu1175Lys)	LOC126860741, TNC (E1175K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254795	NM_002160.4(TNC):c.3755T>C (p.Leu1252Ser)	LOC126860741, TNC (L1252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214197	NM_002160.4(TNC):c.5528G>A (p.Arg1843His)	LOC126860740, TNC (R1843H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318359	NM_002160.4(TNC):c.5613A>G (p.Lys1871=)	LOC126860740, TNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317842	NM_002160.4(TNC):c.5513-291A>T	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317669	NM_002160.4(TNC):c.5531C>T (p.Thr1844Met)	LOC126860740, TNC (T1844M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1316827	NM_002160.4(TNC):c.5513-105C>T	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274023	NM_002160.4(TNC):c.3760+129G>A	LOC126860741, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267151	NM_002160.4(TNC):c.5513-312C>G	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248641	NM_002160.4(TNC):c.3739C>A (p.Leu1247Ile)	LOC126860741, TNC (L1247I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1227716	NM_002160.4(TNC):c.5513-317G>A	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183557	NM_002160.4(TNC):c.3761-136C>T	LOC126860741, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065109	NM_002160.4(TNC):c.5611A>G (p.Lys1871Glu)	LOC126860740, TNC (K1871E)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 994554	NM_002160.4(TNC):c.2404C>T (p.Arg802Cys)	TNC (R802C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930251	NM_002160.4(TNC):c.6496-18del	TNC	Deletion (intron variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 736987	NM_002160.4(TNC):c.3589A>G (p.Ile1197Val)	LOC126860741, TNC (I1197V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709861	NM_002160.4(TNC):c.3711G>A (p.Gly1237=)	LOC126860741, TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 685273	GRCh37/hg19 9q33.1(chr9:117775767-117855553)x3	TNC	Copy number gain	not provided	GUncertain significance
Select item 377084	NM_002160.4(TNC):c.3707G>A (p.Arg1236His)	LOC126860741, TNC (R1236H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 374544	NM_002160.4(TNC):c.4172A>G (p.Gln1391Arg)	TNC (Q1391R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 34