ClinVar for PubMed (Select 25430424) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248446	NC_000019.9:g.(?_55652231)_(55658525_?)del	TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 2858894	NM_003283.6(TNNT1):c.33-1G>A	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 2104989	NM_003283.6(TNNT1):c.61dup (p.Glu21fs)	TNNT1 (E21fs)	Duplication (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 2010722	NM_003283.6(TNNT1):c.310-2A>T	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 2004473	NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)	TNNT1 (W209*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 5	GPathogenic
Select item 1481323	NM_003283.6(TNNT1):c.387+1G>A	TNNT1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 1456474	NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)	TNNT1 (E128* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 5	GPathogenic
Select item 1452357	NM_003283.6(TNNT1):c.78del (p.Glu27fs)	TNNT1 (E27fs)	Deletion (frameshift variant +1 more)	Nemaline myopathy 5	GPathogenic
Select item 1413567	NC_000019.9:g.(?_55652544)_(55656943_?)del	TNNT1	Deletion	Nemaline myopathy 5	GPathogenic
Select item 1066598	NM_003283.6(TNNT1):c.501+1G>A	TNNT1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 978511	NM_003283.6(TNNT1):c.452del (p.Lys151fs)	TNNT1 (K151fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 949099	NM_003283.6(TNNT1):c.695dup (p.Leu233fs)	TNNT1 (L233fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 569105	NM_003283.6(TNNT1):c.502-2A>G	TNNT1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 5	GLikely pathogenic
Select item 534399	NM_003283.6(TNNT1):c.120dup (p.Lys41fs)	TNNT1 (K41fs +1 more)	Duplication (frameshift variant)	Nemaline myopathy 5	GPathogenic
Select item 465995	NM_003283.6(TNNT1):c.32+5G>A	TNNT1	Single nucleotide variant (intron variant)	Nemaline myopathy 5 +1 more	GConflicting classifications of pathogenicity
Select item 12440	NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)	TNNT1 (E180* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 5	GPathogenic