PUS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 676183	NM_025215.5(PUS1):c.-558C>G	PUS1	Single nucleotide variant	not provided	GBenign
Select item 1247005	NC_000012.12:g.131929174C>T	PUS1	Single nucleotide variant	not provided	GBenign
Select item 678339	NM_025215.5(PUS1):c.-534T>G	PUS1	Single nucleotide variant	not provided	GLikely benign
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 307692	NM_025215.5(PUS1):c.-453C>T	PUS1	Single nucleotide variant	Myopathy, lactic acidosis, and sideroblastic anemia 1	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 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 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 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 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 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 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 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 514445	NM_025215.6(PUS1):c.-49G>T	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384562	NM_025215.6(PUS1):c.-46A>G	PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2146777	NM_025215.6(PUS1):c.1A>G (p.Met1Val)	PUS1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3032548	NM_025215.6(PUS1):c.2T>G (p.Met1Arg)	PUS1 (M1R)	Single nucleotide variant (missense variant +2 more)	PUS1-related disorder	GUncertain significance
Select item 2967937	NM_025215.6(PUS1):c.6C>A (p.Gly2=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963284	NM_025215.6(PUS1):c.6C>T (p.Gly2=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2420294	NM_025215.6(PUS1):c.8T>A (p.Leu3His)	PUS1 (L3H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1147342	NM_025215.6(PUS1):c.9C>G (p.Leu3=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1361128	NM_025215.6(PUS1):c.10C>T (p.Gln4Ter)	PUS1 (Q4*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2819926	NM_025215.6(PUS1):c.12G>A (p.Gln4=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121316	NM_025215.6(PUS1):c.17G>A (p.Arg6His)	PUS1 (R6H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1081900	NM_025215.6(PUS1):c.18C>T (p.Arg6=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080730	NM_025215.6(PUS1):c.20C>T (p.Ala7Val)	PUS1 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2035431	NM_025215.6(PUS1):c.21G>T (p.Ala7=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1086876	NM_025215.6(PUS1):c.21G>C (p.Ala7=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3149828	NM_025215.6(PUS1):c.22C>G (p.Leu8Val)	PUS1 (L8V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1092515	NM_025215.6(PUS1):c.24G>A (p.Leu8=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017559	NM_025215.6(PUS1):c.30A>C (p.Gly10=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1619982	NM_025215.6(PUS1):c.33C>A (p.Ala11=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1143523	NM_025215.6(PUS1):c.33C>T (p.Ala11=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715794	NM_025215.6(PUS1):c.39A>C (p.Gly13=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1130269	NM_025215.6(PUS1):c.40C>A (p.Arg14=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1197754	NM_025215.6(PUS1):c.41G>A (p.Arg14Gln)	PUS1 (R14Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3012378	NM_025215.6(PUS1):c.48C>A (p.Thr16=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1134771	NM_025215.6(PUS1):c.49C>T (p.Leu17=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543721	NM_025215.6(PUS1):c.55C>T (p.Leu19=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752530	NM_025215.6(PUS1):c.57G>T (p.Leu19=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797131	NM_025215.6(PUS1):c.58G>T (p.Gly20Ter)	PUS1 (G20*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3004536	NM_025215.6(PUS1):c.63G>A (p.Pro21=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383411	NM_025215.6(PUS1):c.65G>A (p.Arg22His)	PUS1 (R22H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2058353	NM_025215.6(PUS1):c.69G>A (p.Pro23=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1596174	NM_025215.6(PUS1):c.69G>T (p.Pro23=)	PUS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011327	NM_025215.6(PUS1):c.74+2del	PUS1	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1146113	NM_025215.6(PUS1):c.74+8C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1100191	NM_025215.6(PUS1):c.74+9C>G	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668079	NM_025215.6(PUS1):c.74+10G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883776	NM_025215.6(PUS1):c.74+14C>T	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006558	NM_025215.6(PUS1):c.74+19G>A	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846958	NM_025215.6(PUS1):c.74+20G>C	PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246863	NM_025215.6(PUS1):c.74+34C>G	PUS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1118230	NM_025215.6(PUS1):c.183C>T (p.Asp61=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215039	NM_025215.6(PUS1):c.185G>A (p.Gly62Glu)	PUS1 (G34E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 389176	NM_025215.6(PUS1):c.186A>G (p.Gly62=)	PUS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2808628	NM_025215.6(PUS1):c.189A>G (p.Glu63=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2740250	NM_025215.6(PUS1):c.194del (p.Pro65fs)	PUS1 (P37fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1610102	NM_025215.6(PUS1):c.195G>A (p.Pro65=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538446	NM_025215.6(PUS1):c.198G>T (p.Ala66=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618795	NM_025215.6(PUS1):c.201G>A (p.Lys67=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614244	NM_025215.6(PUS1):c.207C>T (p.Leu69=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 307698	NM_025215.6(PUS1):c.207C>G (p.Leu69=)	PUS1	Single nucleotide variant (synonymous variant)	Myopathy, lactic acidosis, and sideroblastic anemia +1 more	GConflicting classifications of pathogenicity
Select item 2415931	NM_025215.6(PUS1):c.210G>C (p.Lys70Asn)	PUS1 (K42N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135519	NM_025215.6(PUS1):c.210G>A (p.Lys70=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108655	NM_025215.6(PUS1):c.213C>T (p.Ser71=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192918	NM_025215.6(PUS1):c.216T>G (p.Gly72=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 215042	NM_025215.6(PUS1):c.218G>A (p.Gly73Asp)	PUS1 (G45D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1154792	NM_025215.6(PUS1):c.222C>T (p.Asp74=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 844870	NM_025215.6(PUS1):c.225_226delinsTT (p.Glu75_Glu76delinsAspTer)	PUS1	Indel (nonsense)	not provided	GPathogenic
Select item 2846643	NM_025215.6(PUS1):c.229C>A (p.Arg77=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574369	NM_025215.6(PUS1):c.229C>G (p.Arg77Gly)	PUS1 (R49G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946362	NM_025215.6(PUS1):c.234C>G (p.Arg78=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149829	NM_025215.6(PUS1):c.235G>A (p.Glu79Lys)	PUS1 (E51K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080779	NM_025215.6(PUS1):c.240G>A (p.Lys80=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044678	NM_025215.6(PUS1):c.242C>A (p.Pro81Gln)	PUS1 (P81Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707159	NM_025215.6(PUS1):c.243G>T (p.Pro81=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150245	NM_025215.6(PUS1):c.243G>C (p.Pro81=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817641	NM_025215.6(PUS1):c.246C>G (p.Pro82=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711361	NM_025215.6(PUS1):c.248A>G (p.Lys83Arg)	PUS1 (K55R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083924	NM_025215.6(PUS1):c.249G>A (p.Lys83=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091285	NM_025215.6(PUS1):c.258C>T (p.Ile86=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672887	NM_025215.6(PUS1):c.261G>A (p.Val87=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751480	NM_025215.6(PUS1):c.262C>T (p.Leu88=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746983	NM_025215.6(PUS1):c.264G>C (p.Leu88=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136833	NM_025215.6(PUS1):c.267C>T (p.Leu89=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760946	NM_025215.6(PUS1):c.273C>T (p.Ala91=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630795	NM_025215.6(PUS1):c.273C>A (p.Ala91=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081413	NM_025215.6(PUS1):c.273C>G (p.Ala91=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094211	NM_025215.6(PUS1):c.279G>T (p.Ser93=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857861	NM_025215.6(PUS1):c.282C>G (p.Gly94=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1620095	NM_025215.6(PUS1):c.294C>T (p.His98=)	PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970678	NM_025215.6(PUS1):c.301C>T (p.Gln101Ter)	PUS1 (Q101* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2798437	NM_025215.6(PUS1):c.303+1G>T	PUS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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