ClinVar for Gene (Select 259236) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369116	NM_147196.3(TMIE):c.440A>G (p.Asn147Ser)	TMIE (N147S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360845	NM_147196.3(TMIE):c.256C>T (p.Arg86Trp)	TMIE (R33W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327254	NM_147196.3(TMIE):c.22G>A (p.Gly8Ser)	TMIE (G8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3327253	NM_147196.3(TMIE):c.390G>C (p.Lys130Asn)	TMIE (K77N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327252	NM_147196.3(TMIE):c.388A>G (p.Lys130Glu)	TMIE (K130E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327251	NM_147196.3(TMIE):c.58G>C (p.Val20Leu)	TMIE (V20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3000654	NM_147196.3(TMIE):c.378G>A (p.Lys126=)	TMIE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981694	NM_147196.3(TMIE):c.251G>A (p.Arg84Gln)	TMIE (R84Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572747	NM_147196.3(TMIE):c.211+1G>C	TMIE	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2517824	NM_147196.3(TMIE):c.275G>A (p.Arg92Gln)	TMIE (R39Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446297	NM_147196.3(TMIE):c.162G>A (p.Met54Ile)	TMIE (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2418284	NM_147196.3(TMIE):c.362-2A>G	TMIE	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2406276	NM_147196.3(TMIE):c.227G>A (p.Cys76Tyr)	TMIE (C23Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381407	NM_147196.3(TMIE):c.31T>C (p.Cys11Arg)	TMIE (C11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310325	NM_147196.3(TMIE):c.49G>A (p.Ala17Thr)	TMIE (A17T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2187141	NM_147196.3(TMIE):c.5C>G (p.Ala2Gly)	TMIE (A2G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177382	NM_147196.3(TMIE):c.338A>G (p.Asn113Ser)	TMIE (N113S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176974	NM_147196.3(TMIE):c.30C>T (p.Leu10=)	TMIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2173553	NM_147196.3(TMIE):c.261G>A (p.Lys87=)	TMIE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965795	NM_147196.3(TMIE):c.94-12C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922215	NM_147196.3(TMIE):c.212-17C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921848	NM_147196.3(TMIE):c.54C>T (p.Leu18=)	TMIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1908201	NM_147196.3(TMIE):c.163C>T (p.Arg55Cys)	TMIE (R2C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1661131	NM_147196.3(TMIE):c.393G>A (p.Lys131=)	TMIE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636068	NM_147196.3(TMIE):c.93+11G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468022	NM_147196.3(TMIE):c.367_368dup (p.Lys124fs)	TMIE (K71fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1444804	NM_147196.3(TMIE):c.128C>T (p.Pro43Leu)	TMIE (P43L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1432543	NM_147196.3(TMIE):c.208A>G (p.Ile70Val)	TMIE (I70V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427527	NM_147196.3(TMIE):c.14C>G (p.Pro5Arg)	TMIE (P5R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418052	NM_147196.3(TMIE):c.122C>T (p.Pro41Leu)	TMIE (P41L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1381034	NM_147196.3(TMIE):c.143C>G (p.Thr48Arg)	TMIE (T48R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1364516	NM_147196.3(TMIE):c.332C>A (p.Pro111His)	TMIE (P111H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354482	NM_147196.3(TMIE):c.5C>T (p.Ala2Val)	TMIE (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1342310	NM_001370524.1(TMIE):c.-507_-66-2329del	TMIE	Deletion (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1286762	NM_147196.3(TMIE):c.212-63G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276955	NM_147196.3(TMIE):c.212-160T>C	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274205	NM_147196.3(TMIE):c.94-305G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272920	NM_001370524.1(TMIE):c.-66-4531A>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265561	NM_001370524.1(TMIE):c.-66-4533G>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264378	NM_147196.3(TMIE):c.275_279del	TMIE	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1262078	NM_001370524.1(TMIE):c.-66-4532C>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258770	NM_001370524.1(TMIE):c.-66-4757C>A	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253168	NM_147196.3(TMIE):c.94-25C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251806	NM_147196.3(TMIE):c.261_269del	TMIE	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1251470	NM_147196.3(TMIE):c.94-291T>C	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251264	NM_147196.3(TMIE):c.278_279insGG	TMIE	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1244908	NM_147196.3(TMIE):c.94-31C>G	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239252	NM_001370524.1(TMIE):c.-66-4749dup	TMIE	Duplication (intron variant)	not provided	GBenign
Select item 1214686	NM_147196.3(TMIE):c.93+70G>C	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214509	NM_147196.3(TMIE):c.59T>A (p.Val20Glu)	TMIE (V20E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1213145	NM_001370524.1(TMIE):c.-66-4751C>G	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211355	NM_147196.3(TMIE):c.211+60C>T	TMIE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189555	NM_001370524.1(TMIE):c.-66-4749del	TMIE	Deletion (intron variant)	not provided	GLikely benign
Select item 1185676	NM_147196.3(TMIE):c.144_145del (p.Val49fs)	TMIE (V49fs)	Deletion (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GPathogenic
Select item 1181466	NM_147196.3(TMIE):c.94-123A>T	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181439	NM_147196.3(TMIE):c.94-88T>G	TMIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180704	NM_147196.3(TMIE):c.349G>T (p.Glu117Ter)	TMIE (E117* +1 more)	Single nucleotide variant (nonsense)	Ear malformation	GLikely pathogenic
Select item 1175546	NM_147196.3(TMIE):c.148G>T (p.Val50Leu)	TMIE (V50L)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GConflicting classifications of pathogenicity
Select item 984396	NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	TMIE (P43fs)	Duplication (5 prime UTR variant +1 more)	Sensorineural hearing loss disorder +1 more	GPathogenic/Likely pathogenic
Select item 902960	NM_147196.3(TMIE):c.*803C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902959	NM_147196.3(TMIE):c.*719G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902958	NM_147196.3(TMIE):c.*671G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902957	NM_147196.3(TMIE):c.*642C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902081	NM_147196.3(TMIE):c.*260C>A	TMIE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902080	NM_147196.3(TMIE):c.*253G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 902079	NM_147196.3(TMIE):c.*148A>G	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902078	NM_147196.3(TMIE):c.*94A>C	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 902077	NM_147196.3(TMIE):c.*47T>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 901506	NM_147196.3(TMIE):c.413C>T (p.Ala138Val)	TMIE (A138V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 901505	NM_147196.3(TMIE):c.192G>A (p.Ser64=)	TMIE	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GConflicting classifications of pathogenicity
Select item 900406	NM_147196.3(TMIE):c.*974C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 900353	NM_147196.3(TMIE):c.64C>T (p.Leu22Phe)	TMIE (L22F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GUncertain significance
Select item 900352	NM_147196.3(TMIE):c.-8G>T	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 900351	NM_147196.3(TMIE):c.-73C>T	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 817378	NM_147196.3(TMIE):c.58del (p.Val20fs)	TMIE (V20fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 814440	GRCh37/hg19 3p21.31(chr3:46656350-46990919)x3	ALS2CL, CCDC12 +4 more	Copy number gain	not provided	GUncertain significance
Select item 666936	NM_147196.3(TMIE):c.419A>G (p.Lys140Arg)	TMIE (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 517501	NM_147196.3(TMIE):c.390G>A (p.Lys130=)	TMIE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 517406	NM_147196.3(TMIE):c.123G>A (p.Pro41=)	TMIE	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 517316	NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup	TMIE	Duplication	not specified	GUncertain significance
Select item 515000	NM_147196.3(TMIE):c.367AAG[11] (p.Lys130_Lys131dup)	TMIE	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 505528	NM_147196.3(TMIE):c.218C>T (p.Thr73Met)	TMIE (T73M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 505213	NM_147196.3(TMIE):c.101C>T (p.Thr34Met)	TMIE (T34M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 504684	NM_147196.3(TMIE):c.361+11C>T	TMIE	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 504683	NM_147196.3(TMIE):c.211+5G>A	TMIE	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 372538	NM_147196.3(TMIE):c.92A>G (p.Glu31Gly)	TMIE (E31G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 345560	NM_147196.3(TMIE):c.*1000C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Hearing loss, autosomal recessive	GUncertain significance
Select item 345559	NM_147196.3(TMIE):c.*975G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GBenign
Select item 345558	NM_147196.3(TMIE):c.*905G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345557	NM_147196.3(TMIE):c.*829G>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345556	NM_147196.3(TMIE):c.*767G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345555	NM_147196.3(TMIE):c.*695G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GLikely benign
Select item 345554	NM_147196.3(TMIE):c.*691G>A	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345553	NM_147196.3(TMIE):c.*687C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance
Select item 345552	NM_147196.3(TMIE):c.*612C>T	TMIE	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 6	GUncertain significance

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