TNNT3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 303964	NM_006757.3(TNNT3):c.-177dup	TNNT3	Duplication	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303965	NM_006757.3(TNNT3):c.-182C>G	TNNT3	Single nucleotide variant	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303966	NM_006757.3(TNNT3):c.-83G>A	TNNT3	Single nucleotide variant	Arthrogryposis multiplex congenita distal +1 more	GLikely benign
Select item 303967	NM_006757.4(TNNT3):c.-22G>T	TNNT3	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 31866	NM_006757.4(TNNT3):c.-18-482G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 31867	NM_006757.4(TNNT3):c.-18-379C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1245709	NM_006757.4(TNNT3):c.-18-218C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250023	NM_006757.4(TNNT3):c.-18-36CT[11]	TNNT3	Microsatellite (intron variant)	not provided	GBenign
Select item 2192418	NM_006757.4(TNNT3):c.8A>T (p.Asp3Val)	TNNT3 (D3V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2844540	NM_006757.4(TNNT3):c.11A>T (p.Glu4Val)	TNNT3 (E4V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1390336	NM_006757.4(TNNT3):c.13G>A (p.Glu5Lys)	TNNT3 (E5K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31868	NM_006757.4(TNNT3):c.18-76A>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1538619	NM_006757.4(TNNT3):c.18-8C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032832	NM_006757.4(TNNT3):c.18-1G>T	TNNT3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2013470	NM_006757.4(TNNT3):c.31+15C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31869	NM_006757.4(TNNT3):c.32-149A>T	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 2872525	NM_006757.4(TNNT3):c.32-11_32-10delinsAA	TNNT3	Indel (intron variant)	not provided	GUncertain significance
Select item 2783975	NM_006757.4(TNNT3):c.32-3C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1401500	NM_006757.4(TNNT3):c.34C>A (p.Gln12Lys)	TNNT3 (Q12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2168799	NM_006757.4(TNNT3):c.39C>T (p.Tyr13=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946164	NM_006757.4(TNNT3):c.39C>A (p.Tyr13Ter)	TNNT3 (Y13*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1450520	NM_006757.4(TNNT3):c.41_43AAG[2] (p.Glu18del)	TNNT3 (E18del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2872526	NM_006757.4(TNNT3):c.41A>G (p.Glu14Gly)	TNNT3 (E14G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1635028	NM_006757.4(TNNT3):c.49+17C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968159	NM_006757.4(TNNT3):c.49+18C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998162	NM_006757.4(TNNT3):c.49+19G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197742	NM_006757.4(TNNT3):c.49+52C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206909	NM_006757.4(TNNT3):c.49+105G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59749	GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GPathogenic
Select item 1276025	NM_006757.4(TNNT3):c.49+272C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179499	NM_006757.4(TNNT3):c.50-237C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288220	NM_006757.4(TNNT3):c.50-110C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1648760	NM_006757.4(TNNT3):c.50-10C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1685180	NM_006757.4(TNNT3):c.50-9G>A	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1673181	NM_006757.4(TNNT3):c.67+12C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941287	NM_006757.4(TNNT3):c.67+13C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216082	NM_006757.4(TNNT3):c.67+40C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048340	NM_006757.4(TNNT3):c.67+130C>T	TNNT3	Single nucleotide variant (intron variant)	TNNT3-related condition	GLikely benign
Select item 1239823	NM_006757.4(TNNT3):c.67+184T>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222898	NM_006757.4(TNNT3):c.68-500C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288540	NM_006757.4(TNNT3):c.68-350C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281384	NM_006757.4(TNNT3):c.68-247G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281940	NM_006757.4(TNNT3):c.68-136G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239458	NM_006757.4(TNNT3):c.68-132C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267001	NM_006757.4(TNNT3):c.68-125C>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1555402	NM_006757.4(TNNT3):c.68-16G>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 303968	NM_006757.4(TNNT3):c.68-14C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 745063	NM_006757.4(TNNT3):c.68-7T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921574	NM_006757.4(TNNT3):c.68-2A>G	TNNT3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2918449	NM_006757.4(TNNT3):c.82+4C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1422663	NM_006757.4(TNNT3):c.82+4C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014151	NM_006757.4(TNNT3):c.82+5G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 260031	NM_006757.4(TNNT3):c.82+7C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1669452	NM_006757.4(TNNT3):c.82+8G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448892	NM_006757.4(TNNT3):c.82+10C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909668	NM_006757.4(TNNT3):c.82+11G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542120	NM_006757.4(TNNT3):c.82+12C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992823	NM_006757.4(TNNT3):c.82+16C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900836	NM_006757.4(TNNT3):c.82+16C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1656770	NM_006757.4(TNNT3):c.82+19G>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226071	NM_006757.4(TNNT3):c.82+247T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272578	NM_006757.4(TNNT3):c.83-313G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259162	NM_006757.4(TNNT3):c.83-283_83-282del	TNNT3	Deletion (intron variant)	not provided	GBenign
Select item 260032	NM_006757.4(TNNT3):c.83-48A>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +2 more	GBenign
Select item 2957111	NM_006757.4(TNNT3):c.83-20T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1380609	NM_006757.4(TNNT3):c.83-6T>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1597184	NM_006757.4(TNNT3):c.87C>T (p.Thr29=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722748	NM_006757.4(TNNT3):c.99C>T (p.Asp33=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2954722	NM_006757.4(TNNT3):c.100G>A (p.Ala34Thr)	TNNT3 (A45T +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 303969	NM_006757.4(TNNT3):c.101C>T (p.Ala34Val)	TNNT3 (A34V +2 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita distal +2 more	GUncertain significance
Select item 2890234	NM_006757.4(TNNT3):c.106+8C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609883	NM_006757.4(TNNT3):c.106+9C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536797	NM_006757.4(TNNT3):c.106+12T>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971751	NM_006757.4(TNNT3):c.106+17G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022988	NM_006757.4(TNNT3):c.106+20G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225177	NM_006757.4(TNNT3):c.106+163G>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278656	NM_006757.4(TNNT3):c.106+215A>G	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248489	NM_006757.4(TNNT3):c.106+218T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274958	NM_006757.4(TNNT3):c.106+274G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185427	NM_006757.4(TNNT3):c.107-134T>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1264444	NM_006757.4(TNNT3):c.107-117G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185428	NM_006757.4(TNNT3):c.107-115T>C	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1917354	NM_006757.4(TNNT3):c.107-20G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 303970	NM_006757.4(TNNT3):c.107-6G>A	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita distal +3 more	GConflicting classifications of pathogenicity
Select item 2511035	NM_006757.4(TNNT3):c.116C>T (p.Pro39Leu)	TNNT3 (P20L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790456	NM_006757.4(TNNT3):c.125+26_125+84del	TNNT3	Deletion (splice donor variant)	not provided	GBenign
Select item 1906839	NM_006757.4(TNNT3):c.125+9G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260024	NM_006757.4(TNNT3):c.125+50G>C	TNNT3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1181253	NM_006757.4(TNNT3):c.125+56T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign

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