"GeneDx"[submitter] AND "TPM3"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic
Select item 1198687	NM_153649.4(TPM3):c.665-1000C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 292689	NM_152263.4(TPM3):c.*389G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +2 more	GBenign/Likely benign
Select item 967726	NM_152263.4(TPM3):c.835C>G (p.Leu279Val)	TPM3 (L279V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 510708	NM_152263.4(TPM3):c.776-8C>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +3 more	GLikely benign
Select item 262627	NM_152263.4(TPM3):c.776-49T>C	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +3 more	GBenign
Select item 531178	NM_152263.4(TPM3):c.737C>T (p.Ser246Leu)	TPM3 (S246L +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 1313924	NM_152263.4(TPM3):c.728C>T (p.Ala243Val)	TPM3 (A116V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378309	NM_152263.4(TPM3):c.715C>T (p.Arg239Cys)	TPM3 (R112C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426365	NM_152263.4(TPM3):c.706-2dup	TPM3	Duplication (splice acceptor variant)	not specified +2 more	GUncertain significance
Select item 509511	NM_152263.4(TPM3):c.643-3C>T	TPM3	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +3 more	GConflicting classifications of pathogenicity
Select item 1314280	NM_152263.4(TPM3):c.643-11T>G	TPM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 681552	NM_152263.4(TPM3):c.643-20T>A	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206435	NM_152263.4(TPM3):c.642+218G>T	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200008	NM_152263.4(TPM3):c.642+103G>A	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190297	NM_152263.4(TPM3):c.567-94A>G	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670244	NM_152263.4(TPM3):c.567-104CT[5]	TPM3	Microsatellite (intron variant)	not provided	GBenign
Select item 1229611	NM_152263.4(TPM3):c.566+703T>A	TPM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191789	NM_152263.4(TPM3):c.566+531G>A	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198261	NM_152263.4(TPM3):c.566+183G>A	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262625	NM_152263.4(TPM3):c.566+18C>G	TPM3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 12450	NM_152263.4(TPM3):c.503G>A (p.Arg168His)	TPM3 (R168H +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +3 more	GPathogenic
Select item 12454	NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	TPM3 (R168C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4A, autosomal dominant +5 more	GPathogenic
Select item 12453	NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	TPM3 (R168G +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 4B, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 262624	NM_152263.4(TPM3):c.495+28G>C	TPM3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1312878	NM_152263.4(TPM3):c.495+3_495+6del	TPM3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 449764	NM_152263.4(TPM3):c.455C>T (p.Ala152Val)	TPM3 (A115V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1304996	NM_152263.4(TPM3):c.431T>C (p.Leu144Pro)	TPM3 (L107P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314575	NM_152263.4(TPM3):c.412G>A (p.Asp138Asn)	TPM3 (D101N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 389121	NM_152263.4(TPM3):c.340C>T (p.Leu114=)	TPM3	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GLikely benign
Select item 507236	NM_152263.4(TPM3):c.339G>A (p.Lys113=)	TPM3	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GLikely benign
Select item 424027	NM_152263.4(TPM3):c.244G>C (p.Ala82Pro)	TPM3 (A45P +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1214922	NM_152263.4(TPM3):c.244-173TA[3]	TPM3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1207535	NM_152263.4(TPM3):c.244-6756G>A	LOC129931497, TPM3 (G18S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1264391	NM_152263.4(TPM3):c.244-7340G>C	TPM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670799	NM_152263.4(TPM3):c.243+136C>G	TPM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262623	NM_152263.4(TPM3):c.243+11GA[2]	TPM3	Microsatellite (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 673434	NM_152263.4(TPM3):c.118-276T>C	TPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281109	NM_152263.4(TPM3):c.118-295G>A	TPM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227551	NM_152263.4(TPM3):c.117+239T>G	TPM3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 212413	NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)	TPM3 (K31T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 507041	NM_152263.4(TPM3):c.36G>A (p.Leu12=)	TPM3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 42113	NM_152263.4(TPM3):c.11C>T (p.Ala4Val)	TPM3 (A4V)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 518087	NM_152263.4(TPM3):c.-33G>A	TPM3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3361216	NM_152263.4(TPM3):c.4A>G (p.Met2Val)	TPM3 (M2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 45