SQSTM1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 808

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2229913	NM_014275.5(MGAT4B):c.58C>T (p.Leu20Phe)	MGAT4B, SQSTM1 (L20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1220135	NM_001142298.2(SQSTM1):c.-47-2346C>T	SQSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216820	NM_001142298.2(SQSTM1):c.-47-2236del	SQSTM1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211577	NM_001142298.2(SQSTM1):c.-47-2240G>A	SQSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261854	NM_001142298.2(SQSTM1):c.-47-2211G>A	SQSTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217548	NM_001142298.2(SQSTM1):c.-47-2192T>C	SQSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214418	NM_001142298.2(SQSTM1):c.-47-2160G>C	SQSTM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 353151	NM_003900.4(SQSTM1):c.-35G>C	SQSTM1	Single nucleotide variant (intron variant)	Bone Paget disease +1 more	GLikely benign
Select item 975908	NM_003900.5(SQSTM1):c.-27C>T	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	GUncertain significance
Select item 905804	NM_003900.5(SQSTM1):c.-26C>T	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353152	NM_003900.5(SQSTM1):c.-25G>A	SQSTM1	Single nucleotide variant (intron variant +1 more)	Paget disease of bone 3	GBenign
Select item 905805	NM_003900.5(SQSTM1):c.-18G>A	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353153	NM_003900.5(SQSTM1):c.-17C>T	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 906313	NM_003900.5(SQSTM1):c.-7G>C	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 3357091	NM_003900.5(SQSTM1):c.-6C>T	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	SQSTM1-related disorder	GLikely benign
Select item 3341678	NM_003900.5(SQSTM1):c.-5T>G	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1019776	NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)	SQSTM1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 265780	NM_003900.5(SQSTM1):c.2T>A (p.Met1Lys)	SQSTM1 (M1K)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	GPathogenic
Select item 2099586	NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)	SQSTM1 (M1I)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1472643	NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)	SQSTM1 (M1I)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 861123	NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)	SQSTM1 (A2V)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +3 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 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 1690854	NM_003900.5(SQSTM1):c.14C>A (p.Thr5Asn)	SQSTM1 (T5N)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1116604	NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1019498	NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)	SQSTM1 (V6L)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2372616	NM_003900.5(SQSTM1):c.22G>A (p.Ala8Thr)	SQSTM1 (A8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2178347	NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)	SQSTM1 (Y9H)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1406685	NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)	SQSTM1 (Y9C)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2174084	NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 799645	NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 2051613	NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)	SQSTM1 (G12R)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 952577	NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)	SQSTM1 (G12V)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 2130779	NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
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 1669298	NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
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 423540	NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)	SQSTM1 (A16T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GUncertain significance
Select item 906314	NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)	SQSTM1 (A17V)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +5 more	GUncertain significance
Select item 849801	NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)	SQSTM1 (R18H)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 743994	NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 1530275	NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1535751	NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 1050500	NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)	SQSTM1 (F25L)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1611272	NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 2153426	NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 353154	NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)	SQSTM1 (S28R)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
Select item 963309	NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)	SQSTM1 (P29S)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 475407	NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)	SQSTM1 (P29R)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1135818	NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 1410536	NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)	SQSTM1 (E30K)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2575794	NM_003900.5(SQSTM1):c.101_118del (p.Glu34_Ala39del)	SQSTM1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1975551	NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
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 1049299	NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)	SQSTM1 (A33S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2086168	NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)	SQSTM1 (A33G)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 253029	NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	SQSTM1 (A33V)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3 +5 more	GConflicting classifications of pathogenicity
Select item 2630870	NM_003900.5(SQSTM1):c.104C>T (p.Ala35Val)	SQSTM1 (A35V)	Single nucleotide variant (missense variant +1 more)	SQSTM1-related disorder	GUncertain significance
Select item 1713579	NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)	SQSTM1 (A35G)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 420909	NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs)	SQSTM1 (G42fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 571912	NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)	SQSTM1 (E36K)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 2105859	NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)	SQSTM1	Indel (inframe_indel +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1041910	NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)	SQSTM1 (A38E)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2034508	NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1307034	NM_003900.5(SQSTM1):c.116C>T (p.Ala39Val)	SQSTM1 (A39V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609697	NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 959506	NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)	SQSTM1 (P41S)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 542157	NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)	SQSTM1 (P41L)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 3336389	NM_003900.5(SQSTM1):c.123G>A (p.Pro41=)	SQSTM1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2616870	NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)	SQSTM1 (P43S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 664776	NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)	SQSTM1, LOC129995449 (L47V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1456943	NM_003900.5(SQSTM1):c.147C>T (p.Ser49=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 646289	NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)	LOC129995449, SQSTM1 (A52S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 1306583	NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)	LOC129995449, SQSTM1 (A53V)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 1097404	NM_003900.5(SQSTM1):c.160C>T (p.Leu54=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1595586	NM_003900.5(SQSTM1):c.165C>T (p.Phe55=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 353155	NM_003900.5(SQSTM1):c.165C>A (p.Phe55Leu)	LOC129995449, SQSTM1 (F55L)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
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 1511548	NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)	LOC129995449, SQSTM1 (L58del)	Deletion (inframe_deletion +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 1093073	NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 984628	NM_003900.5(SQSTM1):c.175dup (p.Arg59fs)	LOC129995449, SQSTM1 (R59fs)	Duplication (intron variant +1 more)	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	GPathogenic
Select item 1391276	NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser)	LOC129995449, SQSTM1 (P60S)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 353156	NM_003900.5(SQSTM1):c.181G>A (p.Gly61Ser)	LOC129995449, SQSTM1 (G61S)	Single nucleotide variant (intron variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 1081611	NM_003900.5(SQSTM1):c.183C>A (p.Gly61=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 353157	NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GBenign/Likely benign

<< First< Prev

Page of 9