C4551958[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678111	NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)	LOC130009240, PUS1 (C14fs +1 more)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GPathogenic
Select item 2032014	NM_025215.6(PUS1):c.107_122del (p.Pro36fs)	LOC130009240, PUS1 (P8fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678112	NM_025215.6(PUS1):c.130dup (p.Gln44fs)	LOC130009240, PUS1 (Q16fs +1 more)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2678110	NM_025215.6(PUS1):c.178del (p.Glu60fs)	LOC130009240, PUS1 (E32fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2029352	NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)	LOC132090059, PUS1 (Q112* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2536	NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	LOC132090059, PUS1 (R116W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678106	NM_025215.6(PUS1):c.442-1G>T	PUS1	Single nucleotide variant (splice acceptor variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 423712	NM_025215.6(PUS1):c.454dup (p.Ala152fs)	PUS1 (A124fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2137450	NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)	PUS1 (Q154* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GPathogenic
Select item 1452457	NM_025215.6(PUS1):c.482G>A (p.Trp161Ter)	PUS1 (W133* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678113	NM_025215.6(PUS1):c.517del (p.His173fs)	PUS1 (H145fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2582304	NM_025215.6(PUS1):c.517C>T (p.His173Tyr)	PUS1 (H145Y +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 2678107	NM_025215.6(PUS1):c.545-1G>A	PUS1	Single nucleotide variant (splice acceptor variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2077857	NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)	PUS1 (E199K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 402238	NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)	PUS1 (Y211* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 587566	NM_025215.6(PUS1):c.813del (p.Phe272fs)	PUS1 (F272fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2678108	NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)	PUS1 (Q265* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2678115	NM_025215.6(PUS1):c.893_896del (p.Val298fs)	PUS1 (V270fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2125434	NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)	PUS1 (K278* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2678114	NM_025215.6(PUS1):c.929del (p.Pro310fs)	PUS1 (P282fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 3031648	NM_025215.6(PUS1):c.1156dup (p.Ser386fs)	PUS1 (S358fs +1 more)	Duplication (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 2678109	NM_025215.6(PUS1):c.1237-2A>G	PUS1	Single nucleotide variant (splice acceptor variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic

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Items: 22