Related gene-specific medical variations for Gene (Select 80324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149830	NM_025215.6(PUS1):c.352T>C (p.Ser118Pro)	LOC132090059, PUS1 (S118P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3009704	NM_025215.6(PUS1):c.75-14G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009468	NM_025215.6(PUS1):c.354C>A (p.Ser118=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2980721	NM_025215.6(PUS1):c.120C>T (p.Ala40=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2971895	NM_025215.6(PUS1):c.441+13C>T	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908619	NM_025215.6(PUS1):c.84C>G (p.Arg28=)	LOC130009240, PUS1	Single nucleotide variant (5 prime UTR variant +1 more)	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 2874445	NM_025215.6(PUS1):c.324A>G (p.Gln108=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864844	NM_025215.6(PUS1):c.367del (p.Ser123fs)	LOC132090059, PUS1 (S123fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863749	NM_025215.6(PUS1):c.346T>C (p.Leu116=)	LOC132090059, 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 2811214	NM_025215.6(PUS1):c.75-4G>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806951	NM_025215.6(PUS1):c.441+19T>C	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804700	NM_025215.6(PUS1):c.123A>G (p.Ala41=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	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 2791591	NM_025215.6(PUS1):c.393T>C (p.Gly131=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778222	NM_025215.6(PUS1):c.144C>T (p.Ser48=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778107	NM_025215.6(PUS1):c.372C>T (p.Gly124=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753850	NM_025215.6(PUS1):c.162G>C (p.Gly54=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751591	NM_025215.6(PUS1):c.441+18C>G	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701919	NM_025215.6(PUS1):c.75-16C>G	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693341	NM_025215.6(PUS1):c.156G>T (p.Arg52=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2612570	NM_025215.6(PUS1):c.402G>A (p.Met134Ile)	LOC132090059, PUS1 (M106I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2579551	NM_025215.6(PUS1):c.388C>G (p.His130Asp)	LOC132090059, PUS1 (H102D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427069	NM_025215.6(PUS1):c.422G>A (p.Arg141His)	LOC132090059, PUS1 (R113H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2324179	NM_025215.6(PUS1):c.169C>G (p.Arg57Gly)	LOC130009240, PUS1 (R57G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315883	NM_025215.6(PUS1):c.406A>C (p.Lys136Gln)	LOC132090059, PUS1 (K136Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187061	NM_025215.6(PUS1):c.430C>G (p.Arg144Gly)	PUS1, LOC132090059 (R116G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167695	NM_025215.6(PUS1):c.421C>T (p.Arg141Cys)	LOC132090059, PUS1 (R141C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166622	NM_025215.6(PUS1):c.155G>T (p.Arg52Leu)	LOC130009240, PUS1 (R24L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165747	NM_025215.6(PUS1):c.401T>C (p.Met134Thr)	LOC132090059, PUS1 (M106T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150057	NM_025215.6(PUS1):c.121G>A (p.Ala41Thr)	LOC130009240, PUS1 (A13T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2144059	NM_025215.6(PUS1):c.313G>A (p.Gly105Arg)	LOC132090059, PUS1 (G77R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142684	NM_025215.6(PUS1):c.441+14T>C	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142565	NM_025215.6(PUS1):c.157G>A (p.Ala53Thr)	LOC130009240, PUS1 (A53T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137410	NM_025215.6(PUS1):c.441+3G>A	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2109234	NM_025215.6(PUS1):c.319T>C (p.Ser107Pro)	LOC132090059, PUS1 (S107P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2074346	NM_025215.6(PUS1):c.141G>A (p.Arg47=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2063348	NM_025215.6(PUS1):c.126C>T (p.Cys42=)	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 2032014	NM_025215.6(PUS1):c.107_122del (p.Pro36fs)	PUS1, LOC130009240 (P8fs +1 more)	Deletion (frameshift variant)	Myopathy, lactic acidosis, and sideroblastic anemia 1 +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2026731	NM_025215.6(PUS1):c.136C>A (p.Arg46=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991563	NM_025215.6(PUS1):c.366G>A (p.Arg122=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988425	NM_025215.6(PUS1):c.122C>T (p.Ala41Val)	LOC130009240, PUS1 (A13V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980797	NM_025215.6(PUS1):c.137G>A (p.Arg46Gln)	LOC130009240, PUS1 (R18Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1966458	NM_025215.6(PUS1):c.96C>T (p.Asn32=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958490	NM_025215.6(PUS1):c.333A>G (p.Thr111=)	LOC132090059, PUS1	Single nucleotide variant (synonymous 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 1914829	NM_025215.6(PUS1):c.413C>T (p.Ser138Phe)	LOC132090059, PUS1 (S110F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906066	NM_025215.6(PUS1):c.128C>A (p.Pro43His)	LOC130009240, PUS1 (P15H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1879248	NM_025215.6(PUS1):c.387T>A (p.Asn129Lys)	LOC132090059, PUS1 (N101K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674460	NM_025215.6(PUS1):c.165C>A (p.Gly55=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673675	NM_025215.6(PUS1):c.318C>T (p.Ser106=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668174	NM_025215.6(PUS1):c.138G>A (p.Arg46=)	LOC130009240, PUS1	Single nucleotide variant (synonymous 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 1656420	NM_025215.6(PUS1):c.159C>T (p.Ala53=)	LOC130009240, PUS1	Single nucleotide variant (synonymous 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 1589124	NM_025215.6(PUS1):c.75-15C>T	LOC130009240, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579320	NM_025215.6(PUS1):c.414C>T (p.Ser138=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575355	NM_025215.6(PUS1):c.441+10G>A	LOC132090059, PUS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551272	NM_025215.6(PUS1):c.78G>A (p.Ser26=)	PUS1, LOC130009240	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1550425	NM_025215.6(PUS1):c.435A>T (p.Thr145=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544556	NM_025215.6(PUS1):c.366G>C (p.Arg122=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543743	NM_025215.6(PUS1):c.357C>T (p.Ala119=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540587	NM_025215.6(PUS1):c.135C>T (p.Asp45=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537180	NM_025215.6(PUS1):c.390T>C (p.His130=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530651	NM_025215.6(PUS1):c.129C>T (p.Pro43=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347389	NM_025215.6(PUS1):c.159C>G (p.Ala53=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1254575	NM_025215.6(PUS1):c.127C>T (p.Pro43Ser)	LOC130009240, PUS1 (P15S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1160652	NM_025215.6(PUS1):c.312C>T (p.Val104=)	LOC132090059, 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 1147629	NM_025215.6(PUS1):c.111C>T (p.Pro37=)	PUS1, LOC130009240	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122673	NM_025215.6(PUS1):c.171C>T (p.Arg57=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116031	NM_025215.6(PUS1):c.315G>A (p.Gly105=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114191	NM_025215.6(PUS1):c.354C>T (p.Ser118=)	LOC132090059, PUS1	Single nucleotide variant (synonymous 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 1110059	NM_025215.6(PUS1):c.99G>A (p.Ala33=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095338	NM_025215.6(PUS1):c.147C>T (p.Cys49=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088904	NM_025215.6(PUS1):c.393T>G (p.Gly131=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088021	NM_025215.6(PUS1):c.162G>A (p.Gly54=)	LOC130009240, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1087993	NM_025215.6(PUS1):c.351G>A (p.Val117=)	LOC132090059, PUS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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