PUS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 676197	NM_025215.5(PUS1):c.-670A>C	LOC130009239, PUS1	Single nucleotide variant	not provided	GBenign
Select item 676228	NM_025215.5(PUS1):c.-581G>A	LOC130009239, PUS1	Single nucleotide variant	not provided	GBenign
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 215029	NM_025215.6(PUS1):c.75-20C>T	PUS1, LOC130009240	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2701919	NM_025215.6(PUS1):c.75-16C>G	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589124	NM_025215.6(PUS1):c.75-15C>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009704	NM_025215.6(PUS1):c.75-14G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905466	NM_025215.6(PUS1):c.75-14G>A	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934294	NM_025215.6(PUS1):c.75-12C>G	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644343	NM_025215.6(PUS1):c.75-8C>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112301	NM_025215.6(PUS1):c.75-7_75-5del	LOC130009240, PUS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1660583	NM_025215.6(PUS1):c.75-7T>C	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1083339	NM_025215.6(PUS1):c.75-6C>T	PUS1, LOC130009240	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 794169	NM_025215.6(PUS1):c.75-5C>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811214	NM_025215.6(PUS1):c.75-4G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1067098	NM_025215.6(PUS1):c.75-1G>T	LOC130009240, PUS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3004831	NM_025215.6(PUS1):c.78G>T (p.Ser26=)	LOC130009240, PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1551272	NM_025215.6(PUS1):c.78G>A (p.Ser26=)	LOC130009240, PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2908619	NM_025215.6(PUS1):c.84C>G (p.Arg28=)	PUS1, LOC130009240	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2798068	NM_025215.6(PUS1):c.90C>T (p.Ala30=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1082987	NM_025215.6(PUS1):c.90C>G (p.Ala30=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966458	NM_025215.6(PUS1):c.96C>T (p.Asn32=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1970109	NM_025215.6(PUS1):c.98C>G (p.Ala33Gly)	LOC130009240, PUS1 (A5G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1110059	NM_025215.6(PUS1):c.99G>A (p.Ala33=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105714	NM_025215.6(PUS1):c.105G>T (p.Pro35=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046260	NM_025215.6(PUS1):c.105G>A (p.Pro35=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158533	NM_025215.6(PUS1):c.105G>C (p.Pro35=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858042	NM_025215.6(PUS1):c.112_128del (p.Ala38fs)	LOC130009240, PUS1 (A10fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2978777	NM_025215.6(PUS1):c.111C>G (p.Pro37=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147629	NM_025215.6(PUS1):c.111C>T (p.Pro37=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147096	NM_025215.6(PUS1):c.112G>A (p.Ala38Thr)	LOC130009240, PUS1 (A10T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070118	NM_025215.6(PUS1):c.116G>A (p.Gly39Glu)	LOC130009240, PUS1 (G39E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980721	NM_025215.6(PUS1):c.120C>T (p.Ala40=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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