ClinVar for MedGen (Select 899166) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246409	NC_000005.9:g.(?_179220638)_(179263593_?)dup	LTC4S, MGAT4B +1 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2954434	NM_003900.5(SQSTM1):c.532-18T>C	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2954271	NM_003900.5(SQSTM1):c.754+11C>G	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2954254	NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2953779	NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)	SQSTM1 (E45Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2953245	NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)	SQSTM1 (C21G +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2953215	NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)	SQSTM1 (S277A +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2952189	NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)	SQSTM1 (R161L +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2952151	NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 2952106	NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)	SQSTM1 (E104fs +1 more)	Duplication (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GPathogenic
Select item 2952018	NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)	SQSTM1 (P171T +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2951682	NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)	LOC112997583, SQSTM1 (L310fs +1 more)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely pathogenic
Select item 2951484	NM_003900.5(SQSTM1):c.205+18C>T	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2950725	NM_003900.5(SQSTM1):c.754+5G>A	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2950127	NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)	SQSTM1 (A33T)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2949509	NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)	SQSTM1 (Q241* +1 more)	Single nucleotide variant (nonsense)	Paget disease of bone 2, early-onset +1 more	GPathogenic
Select item 2948752	NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)	SQSTM1 (G113E +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2948351	NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)	SQSTM1 (N125I +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2948186	NM_003900.5(SQSTM1):c.763dup (p.Val255fs)	SQSTM1 (V171fs +1 more)	Duplication (frameshift variant)	Paget disease of bone 2, early-onset +1 more	GPathogenic
Select item 2947371	NM_003900.5(SQSTM1):c.301+6G>C	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2947184	NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)	SQSTM1 (S3L)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2946583	NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)	SQSTM1 (R212P +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2946469	NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)	LOC129995449, SQSTM1 (R46P)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2946248	NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)	SQSTM1 (S244L +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2946003	NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2945101	NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2944841	NM_003900.5(SQSTM1):c.302-10C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2944764	NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)	SQSTM1 (S170N +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2943776	NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)	SQSTM1 (P119Q +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2943695	NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)	LOC129995449, SQSTM1 (R46W)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2943651	NM_003900.5(SQSTM1):c.970-4C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2943392	NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)	SQSTM1 (Q287* +1 more)	Single nucleotide variant (nonsense)	Paget disease of bone 2, early-onset +1 more	GPathogenic
Select item 2942912	NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)	SQSTM1 (G133R +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2942752	NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC	LOC129995449, SQSTM1	Indel (intron variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely pathogenic
Select item 2942689	NM_003900.5(SQSTM1):c.205+19G>T	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2942688	NM_003900.5(SQSTM1):c.205+16A>C	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2942594	NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)	SQSTM1 (Q316H +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2942489	NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)	SQSTM1 (R125P +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2941655	NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)	SQSTM1 (D172L +1 more)	Indel (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2941558	NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)	SQSTM1 (S226C +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2941477	NM_003900.5(SQSTM1):c.673+15G>A	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2941373	NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)	SQSTM1 (P166S +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2941216	NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)	SQSTM1 (L329V +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2941000	NM_003900.5(SQSTM1):c.674-11A>G	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2940935	NM_003900.5(SQSTM1):c.206-2A>G	SQSTM1	Single nucleotide variant (splice acceptor variant)	Paget disease of bone 2, early-onset +1 more	GLikely pathogenic
Select item 2940878	NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)	SQSTM1	Deletion (inframe_deletion)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2939739	NM_003900.5(SQSTM1):c.205+14G>A	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2939429	NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2938478	NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)	SQSTM1 (K13E)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2938147	NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)	SQSTM1 (R119G +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2937519	NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)	SQSTM1 (G297R +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2937516	NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2937420	NM_003900.5(SQSTM1):c.754+18C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2937011	NM_003900.5(SQSTM1):c.1166-20C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2936508	NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2936479	NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)	SQSTM1 (L269P +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2935830	NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2935599	NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2935553	NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)	SQSTM1 (R23Q +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2935534	NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2934438	NM_003900.5(SQSTM1):c.302-11C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2934264	NM_003900.5(SQSTM1):c.531+16G>A	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2933716	NM_003900.5(SQSTM1):c.673+19C>A	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2933421	NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2932654	NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)	SQSTM1 (P300S +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2932436	NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)	SQSTM1 (S248T +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2932299	NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)	SQSTM1 (D15N)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2932278	NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2932086	NM_003900.5(SQSTM1):c.205+7G>T	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2932081	NM_003900.5(SQSTM1):c.674-8A>G	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2932020	NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)	LOC129995449, SQSTM1 (A65E)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2931971	NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)	SQSTM1 (N246D +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2931936	NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)	SQSTM1 (C131Y +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2931918	NM_003900.5(SQSTM1):c.755-13C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2931310	NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2931033	NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)	SQSTM1 (A167T +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2930992	NM_003900.5(SQSTM1):c.302-15T>C	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2930942	NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)	SQSTM1 (G194E +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2930664	NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)	SQSTM1 (T350R +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2930511	NM_003900.5(SQSTM1):c.531+16G>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2930212	NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2929628	NM_003900.5(SQSTM1):c.532-9C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2929283	NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)	SQSTM1 (P353L +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2928980	NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2928664	NM_003900.5(SQSTM1):c.956del (p.Glu319fs)	SQSTM1 (E235fs +1 more)	Deletion (frameshift variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2928652	NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)	SQSTM1 (M87T +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2927369	NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)	SQSTM1 (T330S +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2927008	NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2926748	NM_003900.5(SQSTM1):c.532-5C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2926556	NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)	SQSTM1 (P384A +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2926514	NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2926419	NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)	SQSTM1 (C61S +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2926361	NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2926273	NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2926083	NM_003900.5(SQSTM1):c.674-5C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2925715	NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2925387	NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)	SQSTM1 (M3V +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2924582	NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)	SQSTM1 (M85T +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2924476	NM_003900.5(SQSTM1):c.301+10T>A	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2924324	NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign

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