TPM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
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 875598	NM_152263.4(TPM3):c.*6097G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292624	NM_152263.4(TPM3):c.*5926T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876591	NM_152263.4(TPM3):c.*5901G>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 876592	NM_152263.4(TPM3):c.*5870A>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876593	NM_152263.4(TPM3):c.*5865A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292625	NM_152263.4(TPM3):c.*5856T>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 873749	NM_152263.4(TPM3):c.*5795C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292626	NM_152263.4(TPM3):c.*5755A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 873750	NM_152263.4(TPM3):c.*5715C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292627	NM_152263.4(TPM3):c.*5701C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 874703	NM_152263.4(TPM3):c.*5658G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 874704	NM_152263.4(TPM3):c.*5640C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 292628	NM_152263.4(TPM3):c.*5594G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 292629	NM_152263.4(TPM3):c.*5583C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292630	NM_152263.4(TPM3):c.*5577C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292631	NM_152263.4(TPM3):c.*5573GA[1]	TPM3	Microsatellite (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292632	NM_152263.4(TPM3):c.*5572dup	TPM3	Duplication (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292633	NM_152263.4(TPM3):c.*5549GT[1]	TPM3	Microsatellite (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 875645	NM_152263.4(TPM3):c.*5500C>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292634	NM_152263.4(TPM3):c.*5440A>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876643	NM_152263.4(TPM3):c.*5437G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 876644	NM_152263.4(TPM3):c.*5406A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873798	NM_152263.4(TPM3):c.*5266T>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873799	NM_152263.4(TPM3):c.*5239C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873800	NM_152263.4(TPM3):c.*5204C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 874761	NM_152263.4(TPM3):c.*5149G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign/Likely benign
Select item 292635	NM_152263.4(TPM3):c.5028_5029dup	TPM3	Duplication (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292636	NM_152263.4(TPM3):c.*4968A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 292637	NM_152263.4(TPM3):c.*4940C>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 876686	NM_152263.4(TPM3):c.*4930G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876687	NM_152263.4(TPM3):c.*4924C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876688	NM_152263.4(TPM3):c.*4876C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GLikely benign
Select item 873854	NM_152263.4(TPM3):c.*4872A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873855	NM_152263.4(TPM3):c.*4806A>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292638	NM_152263.4(TPM3):c.*4636G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292639	NM_152263.4(TPM3):c.4574_4578del	TPM3	Deletion (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292640	NM_152263.4(TPM3):c.*4541T>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292641	NM_152263.4(TPM3):c.*4525G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292642	NM_152263.4(TPM3):c.*4513G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 874806	NM_152263.4(TPM3):c.*4443G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 875746	NM_152263.4(TPM3):c.*4423G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292643	NM_152263.4(TPM3):c.*4389G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292644	NM_152263.4(TPM3):c.*4333A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GLikely benign
Select item 292645	NM_152263.4(TPM3):c.*4302A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873909	NM_152263.4(TPM3):c.*4287A>G	TPM3	Single nucleotide variant (intron variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292646	NM_152263.4(TPM3):c.*4203G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292647	NM_152263.4(TPM3):c.*4194G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 873910	NM_152263.4(TPM3):c.*4154C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign/Likely benign
Select item 874855	NM_152263.4(TPM3):c.*4095G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 874856	NM_152263.4(TPM3):c.*4062G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign/Likely benign
Select item 875790	NM_152263.4(TPM3):c.*3872T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292648	NM_152263.4(TPM3):c.*3860C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292649	NM_152263.4(TPM3):c.*3822G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 876786	NM_152263.4(TPM3):c.*3819G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292650	NM_152263.4(TPM3):c.*3807G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292651	NM_152263.4(TPM3):c.*3756dup	TPM3	Duplication (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292652	NM_152263.4(TPM3):c.*3756C>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292653	NM_152263.4(TPM3):c.*3558G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873971	NM_152263.4(TPM3):c.*3497T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign/Likely benign
Select item 873972	NM_152263.4(TPM3):c.*3481C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 873973	NM_152263.4(TPM3):c.*3298A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292654	NM_152263.4(TPM3):c.*3248G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GLikely benign
Select item 874908	NM_152263.4(TPM3):c.*3015G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292655	NM_152263.4(TPM3):c.*2784C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 292656	NM_152263.4(TPM3):c.*2774G>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 875843	NM_152263.4(TPM3):c.*2757C>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292657	NM_152263.4(TPM3):c.*2719G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 292658	NM_152263.4(TPM3):c.*2675T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 876837	NM_152263.4(TPM3):c.*2652C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 876838	NM_152263.4(TPM3):c.*2630T>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292659	NM_152263.4(TPM3):c.*2597G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292660	NM_152263.4(TPM3):c.*2565G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 874032	NM_152263.4(TPM3):c.*2544C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 874033	NM_152263.4(TPM3):c.*2423G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292661	NM_152263.4(TPM3):c.*2409G>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign
Select item 292662	NM_152263.4(TPM3):c.*2298T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 874965	NM_152263.4(TPM3):c.*2295T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292663	NM_152263.4(TPM3):c.*2240C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292664	NM_152263.4(TPM3):c.*2220T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292665	NM_152263.4(TPM3):c.*2211A>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 292666	NM_152263.4(TPM3):c.*2185C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GBenign
Select item 876890	NM_152263.4(TPM3):c.*2152C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292667	NM_152263.4(TPM3):c.*2147del	TPM3	Deletion (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GLikely benign
Select item 292668	NM_152263.4(TPM3):c.*2138T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GLikely benign
Select item 292669	NM_152263.4(TPM3):c.*2130del	TPM3	Deletion (3 prime UTR variant +1 more)	Nemaline myopathy +1 more	GUncertain significance
Select item 292670	NM_152263.4(TPM3):c.*2116T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 874087	NM_152263.4(TPM3):c.*2101T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292671	NM_152263.4(TPM3):c.*2069C>T	TPM3	Single nucleotide variant (intron variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GBenign
Select item 874088	NM_152263.4(TPM3):c.*2053G>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292672	NM_152263.4(TPM3):c.*2035C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 875021	NM_152263.4(TPM3):c.*2015T>C	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 875022	NM_152263.4(TPM3):c.*1967C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 292673	NM_152263.4(TPM3):c.*1964A>G	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy with fiber type disproportion +1 more	GUncertain significance
Select item 292674	NM_152263.4(TPM3):c.*1791G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GBenign
Select item 292675	NM_152263.4(TPM3):c.*1661C>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 875942	NM_152263.4(TPM3):c.*1652G>A	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance
Select item 875943	NM_152263.4(TPM3):c.*1521G>T	TPM3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 4B, autosomal recessive +1 more	GUncertain significance

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