Related gene-specific medical variations for Gene (Select 8878) - ClinVar

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322556	NM_003900.5(SQSTM1):c.202C>T (p.Arg68Cys)	LOC129995449, SQSTM1 (R68C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251275	NM_003900.5(SQSTM1):c.*986C>T	MRNIP, SQSTM1 (A227T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 2924264	NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)	LOC129995449, SQSTM1 (A65T)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2656138	NM_016175.4(MRNIP):c.690G>A (p.Ala230=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2581000	NM_003900.5(SQSTM1):c.200A>G (p.Tyr67Cys)	LOC129995449, SQSTM1 (Y67C)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +1 more	GUncertain significance
Select item 2436472	NM_003900.5(SQSTM1):c.808_810del (p.Pro270del)	SQSTM1 (P186del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2154636	NM_003900.5(SQSTM1):c.205+11C>G	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 2036263	NM_003900.5(SQSTM1):c.205+14G>C	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1985646	NM_003900.5(SQSTM1):c.205+2T>C	LOC129995449, SQSTM1	Single nucleotide variant (intron variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely pathogenic
Select item 1976583	NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1936714	NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1699867	NM_003900.5(SQSTM1):c.196C>T (p.His66Tyr)	LOC129995449, SQSTM1 (H66Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691078	NM_003900.5(SQSTM1):c.784_820del (p.Gly262fs)	SQSTM1 (G178fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	GPathogenic
Select item 1628963	NM_003900.5(SQSTM1):c.205+12G>T	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 1602242	NM_003900.5(SQSTM1):c.205+18C>G	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +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 1584837	NM_003900.5(SQSTM1):c.205+12G>C	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +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 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 1423748	NM_003900.5(SQSTM1):c.205+6C>T	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
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 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 1252109	NM_003900.5(SQSTM1):c.205+116G>A	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186694	NM_003900.5(SQSTM1):c.205+119G>A	SQSTM1, LOC129995449	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1093073	NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
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 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 931366	NM_016175.4(MRNIP):c.937G>T (p.Glu313Ter)	MRNIP, SQSTM1 (E313* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	GUncertain significance
Select item 907442	NM_003900.5(SQSTM1):c.*1273C>T	MRNIP, SQSTM1 (W131* +1 more)	Single nucleotide variant (nonsense +1 more)	Paget disease of bone 3	GUncertain significance
Select item 907441	NM_003900.5(SQSTM1):c.*1141G>A	MRNIP, SQSTM1 (A230V +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 906448	NM_003900.5(SQSTM1):c.*786G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GLikely benign
Select item 906447	NM_003900.5(SQSTM1):c.*722T>C	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 906446	NM_003900.5(SQSTM1):c.*710G>C	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3 +1 more	GUncertain significance
Select item 906315	NM_003900.5(SQSTM1):c.205+9G>A	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 3	GUncertain significance
Select item 904834	NM_003900.5(SQSTM1):c.*431T>G	SQSTM1, LOC112997583	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 904833	NM_003900.5(SQSTM1):c.*392C>T	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 904832	NM_003900.5(SQSTM1):c.*387A>G	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 904122	NM_003900.5(SQSTM1):c.*1394C>T	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 904121	NM_003900.5(SQSTM1):c.*1353C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 842979	NM_003900.5(SQSTM1):c.205+7G>A	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +1 more	GLikely benign
Select item 771810	NM_003900.5(SQSTM1):c.205+7G>C	LOC129995449, SQSTM1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 761819	NM_003900.5(SQSTM1):c.189C>T (p.Phe63=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GLikely benign
Select item 741830	NM_003900.5(SQSTM1):c.195G>A (p.Ala65=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +1 more	GLikely benign
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 646289	NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)	SQSTM1, LOC129995449 (A52S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 586684	NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)	LOC129995449, SQSTM1 (G62V)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +2 more	GConflicting classifications of pathogenicity
Select item 448530	NM_003900.5(SQSTM1):c.204C>G (p.Arg68=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
Select item 353188	NM_003900.5(SQSTM1):c.*1480C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353187	NM_003900.5(SQSTM1):c.*1336C>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353186	NM_003900.5(SQSTM1):c.*1322G>T	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GBenign
Select item 353185	NM_003900.5(SQSTM1):c.*1299GA[1]	MRNIP, SQSTM1	Microsatellite (3 prime UTR variant +1 more)	Bone Paget disease	GUncertain significance
Select item 353184	NM_003900.5(SQSTM1):c.*1235T>C	MRNIP, SQSTM1 (N199D +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353183	NM_016175.4(MRNIP):c.625A>G (p.Arg209Gly)	MRNIP, SQSTM1 (R154G +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3 +1 more	GUncertain significance
Select item 353182	NM_003900.5(SQSTM1):c.*1138T>C	MRNIP, SQSTM1 (Q231R +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GBenign
Select item 353181	NM_003900.5(SQSTM1):c.*1111G>C	MRNIP, SQSTM1 (S185* +1 more)	Single nucleotide variant (nonsense +1 more)	Paget disease of bone 3	GLikely benign
Select item 353180	NM_016175.4(MRNIP):c.729C>T (p.Asp243=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3 +1 more	GBenign/Likely benign
Select item 353179	NM_016175.4(MRNIP):c.843C>T (p.Ala281=)	SQSTM1, MRNIP	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3 +1 more	GConflicting classifications of pathogenicity
Select item 353178	NM_016175.4(MRNIP):c.993C>T (p.Asp331=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3 +1 more	GConflicting classifications of pathogenicity
Select item 353177	NM_003900.5(SQSTM1):c.725_728dup	MRNIP, SQSTM1	Duplication (3 prime UTR variant)	Bone Paget disease +1 more	GUncertain significance
Select item 353175	NM_003900.5(SQSTM1):c.*288C>T	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353174	NM_003900.5(SQSTM1):c.*279C>G	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 353173	NM_003900.5(SQSTM1):c.*260C>T	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353172	NM_003900.5(SQSTM1):c.*259G>A	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353171	NM_003900.5(SQSTM1):c.*243C>G	LOC112997583, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
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
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 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

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Links from Gene

Items: 80