"GeneDx"[submitter] AND "TNNT3"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 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 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 31868	NM_006757.4(TNNT3):c.18-76A>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
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 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 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 1216082	NM_006757.4(TNNT3):c.67+40C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	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 3373470	NM_006757.4(TNNT3):c.69G>A (p.Glu23=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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)	not provided +2 more	GBenign
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)	not provided +1 more	GBenign
Select item 303970	NM_006757.4(TNNT3):c.107-6G>A	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 260024	NM_006757.4(TNNT3):c.125+50G>C	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181253	NM_006757.4(TNNT3):c.125+56T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214066	NM_006757.4(TNNT3):c.126-236C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178638	NM_006757.4(TNNT3):c.172-159A>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800644	NM_006757.4(TNNT3):c.175A>T (p.Ile59Phe)	TNNT3 (I40F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31874	NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	TNNT3 (R63C +7 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2 +2 more	GPathogenic/Likely pathogenic
Select item 8913	NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	TNNT3 (R63H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2502047	NM_006757.4(TNNT3):c.277A>C (p.Lys93Gln)	TNNT3 (K104Q +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216870	NM_006757.4(TNNT3):c.366+86C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227875	NM_006757.4(TNNT3):c.366+139C>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260026	NM_006757.4(TNNT3):c.367-16A>G	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260027	NM_006757.4(TNNT3):c.367-9T>C	TNNT3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 31870	NM_006757.4(TNNT3):c.414G>A (p.Glu138=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GBenign/Likely benign
Select item 303974	NM_006757.4(TNNT3):c.480+10G>T	TNNT3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1286127	NM_006757.4(TNNT3):c.481-5T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429865	NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del)	TNNT3 (K177del +8 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 31871	NM_006757.4(TNNT3):c.636T>C (p.Ile212=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
Select item 1185429	NM_006757.4(TNNT3):c.681+63T>C	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1246889	NM_006757.4(TNNT3):c.681+189G>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240862	NM_006757.4(TNNT3):c.681+193G>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241730	NM_006757.4(TNNT3):c.681+216G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276463	NM_006757.4(TNNT3):c.682-947C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320671	NM_006757.4(TNNT3):c.682-677C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272119	NM_006757.4(TNNT3):c.682-403T>C	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234681	NM_006757.4(TNNT3):c.682-399G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274761	NM_006757.4(TNNT3):c.682-312G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243894	NM_006757.4(TNNT3):c.682-92C>T	TNNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373147	NM_006757.4(TNNT3):c.695G>A (p.Arg232Lys)	TNNT3 (R232K +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1220376	NM_006757.4(TNNT3):c.723-140G>A	TNNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 303979	NM_006757.4(TNNT3):c.759C>T (p.Val253=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 31872	NM_006757.4(TNNT3):c.762C>T (p.Gly254=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
Select item 260023	NM_006757.4(TNNT3):c.*36C>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 303981	NM_006757.4(TNNT3):c.*86C>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 65