ClinVar for MedGen (Select 1634824) - ClinVar

Links from MedGen

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065505	NM_025215.6(PUS1):c.462_463dup (p.Val155fs)	PUS1 (V127fs +1 more)	Duplication (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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 1804836	NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)	PUS1 (S26fs)	Duplication (frameshift variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GLikely pathogenic
Select item 1705355	NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)	PUS1 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1442871	NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)	PUS1 (W15*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1180563	NM_025215.6(PUS1):c.303+89G>T	PUS1	Single nucleotide variant (intron variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GBenign
Select item 883396	NM_025215.6(PUS1):c.*253G>C	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GBenign
Select item 883357	NM_025215.6(PUS1):c.649G>A (p.Val217Ile)	PUS1 (V217I +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GUncertain significance
Select item 883356	NM_025215.6(PUS1):c.638A>G (p.Lys213Arg)	PUS1 (K185R +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 882622	NM_025215.6(PUS1):c.*208T>C	PUS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 882621	NM_025215.6(PUS1):c.*192T>C	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 882620	NM_025215.6(PUS1):c.*164C>T	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 882573	NM_025215.6(PUS1):c.426C>T (p.Cys142=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882572	NM_025215.6(PUS1):c.365G>A (p.Arg122Gln)	LOC132090059, PUS1 (R94Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882352	NM_025215.6(PUS1):c.1129A>G (p.Ile377Val)	PUS1 (I349V +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 882304	NM_025215.6(PUS1):c.287G>A (p.Gly96Asp)	PUS1 (G68D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882303	NM_025215.6(PUS1):c.-80G>A	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 882302	NM_025215.6(PUS1):c.-151G>A	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 880990	NM_025215.6(PUS1):c.946C>T (p.Arg316Cys)	PUS1 (R316C +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GUncertain significance
Select item 880989	NM_025215.6(PUS1):c.937G>A (p.Val313Met)	PUS1 (V313M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880946	NM_025215.6(PUS1):c.-424C>T	PUS1	Single nucleotide variant (5 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 880945	NM_025215.5(PUS1):c.-457G>C	PUS1	Single nucleotide variant	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 796027	NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg)	PUS1 (Q361R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787676	NM_025215.6(PUS1):c.1008G>A (p.Glu336=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 766349	NM_025215.6(PUS1):c.1065G>A (p.Pro355=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 766013	NM_025215.6(PUS1):c.1134C>T (p.Ile378=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765898	NM_025215.6(PUS1):c.972C>T (p.Asp324=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 764494	NM_025215.6(PUS1):c.1076C>T (p.Ala359Val)	PUS1 (A331V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 763403	NM_025215.6(PUS1):c.110C>G (p.Pro37Arg)	LOC130009240, PUS1 (P9R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 763065	NM_025215.6(PUS1):c.904G>A (p.Val302Met)	PUS1 (V274M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 762342	NM_025215.6(PUS1):c.1068G>A (p.Leu356=)	PUS1	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 737073	NM_025215.6(PUS1):c.564C>T (p.Gly188=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723686	NM_025215.6(PUS1):c.987C>T (p.Pro329=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691962	NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)	PUS1 (Y346* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GPathogenic
Select item 618854	NM_025215.6(PUS1):c.1214C>T (p.Thr405Met)	PUS1 (T377M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 516555	NM_025215.6(PUS1):c.545-5C>A	PUS1	Single nucleotide variant (intron variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +2 more	GLikely benign
Select item 512031	NM_025215.6(PUS1):c.1065G>T (p.Pro355=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 378450	NM_025215.6(PUS1):c.545-7C>T	PUS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378449	NM_025215.6(PUS1):c.22C>T (p.Leu8=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +2 more	GBenign
Select item 307712	NM_025215.6(PUS1):c.*152A>T	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307711	NM_025215.6(PUS1):c.*122C>T	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307710	NM_025215.6(PUS1):c.*120G>A	PUS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307709	NM_025215.6(PUS1):c.*119C>T	PUS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 307708	NM_025215.6(PUS1):c.1266G>A (p.Gly422=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307707	NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser)	PUS1 (G351S +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307706	NM_025215.6(PUS1):c.1020C>T (p.Phe340=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 307705	NM_025215.6(PUS1):c.894C>T (p.Val298=)	PUS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 307704	NM_025215.6(PUS1):c.725C>T (p.Thr242Met)	PUS1 (T242M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 307703	NM_025215.6(PUS1):c.683C>T (p.Thr228Met)	PUS1 (T200M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 307702	NM_025215.6(PUS1):c.644G>A (p.Arg215Gln)	PUS1 (R215Q +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307701	NM_025215.6(PUS1):c.643C>T (p.Arg215Trp)	PUS1 (R215W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 307700	NM_025215.6(PUS1):c.423C>A (p.Arg141=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307699	NM_025215.6(PUS1):c.216T>C (p.Gly72=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307697	NM_025215.6(PUS1):c.-182C>T	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307696	NM_025215.6(PUS1):c.-244G>C	PUS1	Single nucleotide variant (intron variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307695	NM_025215.6(PUS1):c.-246G>A	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307694	NM_025215.6(PUS1):c.-266G>C	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307693	NM_025215.6(PUS1):c.-287G>C	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 307692	NM_025215.5(PUS1):c.-453C>T	PUS1	Single nucleotide variant	Myopathy, lactic acidosis, and sideroblastic anemia 1	GUncertain significance
Select item 221982	NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)	PUS1 (R295W +1 more)	Single nucleotide variant (missense variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GPathogenic
Select item 215050	NM_025215.6(PUS1):c.841G>A (p.Val281Met)	PUS1 (V253M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215048	NM_025215.6(PUS1):c.190C>T (p.His64Tyr)	PUS1 (H36Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215044	NM_025215.6(PUS1):c.136C>T (p.Arg46Trp)	LOC130009240, PUS1 (R18W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215040	NM_025215.6(PUS1):c.1140C>T (p.Thr380=)	PUS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 215038	NM_025215.6(PUS1):c.984G>A (p.Ala328=)	PUS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 215037	NM_025215.6(PUS1):c.821G>A (p.Arg274Gln)	PUS1 (R246Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215035	NM_025215.6(PUS1):c.621G>A (p.Thr207=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 212780	NM_025215.6(PUS1):c.*16C>T	PUS1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 138859	NM_025215.6(PUS1):c.397G>A (p.Asp133Asn)	LOC132090059, PUS1 (D105N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 138858	NM_025215.6(PUS1):c.364C>A (p.Arg122=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 138857	NM_025215.6(PUS1):c.345C>T (p.Asp115=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +2 more	GBenign
Select item 138854	NM_025215.6(PUS1):c.1197C>T (p.Phe399=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 138853	NM_025215.6(PUS1):c.999G>C (p.Leu333=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 138852	NM_025215.6(PUS1):c.456C>G (p.Ala152=)	PUS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2537	NM_025215.6(PUS1):c.658G>T (p.Glu220Ter)	PUS1 (E220* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 96