"PreventionGenetics, part of Exact Sciences"[submitter] AND "SQSTM1"[g - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 423540	NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)	SQSTM1 (A16T)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +4 more	GUncertain significance
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 664776	NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)	SQSTM1, LOC129995449 (L47V)	Single nucleotide variant (missense variant +1 more)	SQSTM1-related disorder +2 more	GUncertain significance
Select item 646289	NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)	LOC129995449, SQSTM1 (A52S)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 1093073	NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	SQSTM1-related disorder +2 more	GLikely benign
Select item 1165330	NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)	SQSTM1	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GBenign/Likely benign
Select item 706402	NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)	SQSTM1 (R110C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2634117	NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)	SQSTM1 (R110H +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 2935599	NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 202212	NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)	SQSTM1 (A117V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1144725	NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GLikely benign
Select item 567262	NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)	SQSTM1 (P118S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 839604	NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)	SQSTM1 (N125S +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 779541	NM_003900.5(SQSTM1):c.378G>A (p.Val126=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GBenign/Likely benign
Select item 1137335	NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GLikely benign
Select item 766945	NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 793670	NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 1119324	NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GLikely benign
Select item 571746	NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)	SQSTM1 (V69I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 706234	NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 765725	NM_003900.5(SQSTM1):c.532-7C>T	SQSTM1	Single nucleotide variant (intron variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 2022170	NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)	SQSTM1 (S96L +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder +2 more	GUncertain significance
Select item 1362543	NM_003900.5(SQSTM1):c.570C>T (p.His190=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2196098	NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 857901	NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)	SQSTM1 (R125C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GUncertain significance
Select item 751240	NM_003900.5(SQSTM1):c.673+10G>C	SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GLikely benign
Select item 733161	NM_003900.5(SQSTM1):c.674-7A>C	SQSTM1	Single nucleotide variant (intron variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 2635316	NM_003900.5(SQSTM1):c.739G>C (p.Ala247Pro)	SQSTM1 (A163P +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder	GUncertain significance
Select item 706331	NM_003900.5(SQSTM1):c.755-9C>T	SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GLikely benign
Select item 1628817	NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 1346690	NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)	SQSTM1 (D174N +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 2632887	NM_003900.5(SQSTM1):c.773A>G (p.Asp258Gly)	SQSTM1 (D174G +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder	GUncertain significance
Select item 705602	NM_003900.5(SQSTM1):c.783C>T (p.His261=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GLikely benign
Select item 1166057	NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GBenign/Likely benign
Select item 542158	NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)	SQSTM1 (L184V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1625371	NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +2 more	GLikely benign
Select item 353162	NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)	SQSTM1 (V271I +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 259188	NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)	SQSTM1 (E190D +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 3 +4 more	GBenign/Likely benign
Select item 259189	NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)	SQSTM1	Single nucleotide variant (synonymous variant)	Myopathy, distal, with rimmed vacuoles +7 more	GBenign
Select item 1103001	NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GLikely benign
Select item 259190	NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)	SQSTM1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 259191	NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)	SQSTM1	Single nucleotide variant (synonymous variant)	Myopathy, distal, with rimmed vacuoles +7 more	GBenign
Select item 1116787	NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GLikely benign
Select item 1577669	NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GBenign/Likely benign
Select item 259192	NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 259193	NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)	SQSTM1 (R237C +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder +4 more	GBenign/Likely benign
Select item 660485	NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)	SQSTM1 (R237H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 3032118	NM_003900.5(SQSTM1):c.1005_1006insC (p.Asp336fs)	SQSTM1 (D252fs +1 more)	Insertion (frameshift variant)	SQSTM1-related disorder	GLikely pathogenic
Select item 586682	NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GBenign/Likely benign
Select item 259187	NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)	SQSTM1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 475394	NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)	SQSTM1 (G279E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GLikely benign
Select item 448529	NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)	SQSTM1 (S286P +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 3 +4 more	GConflicting classifications of pathogenicity
Select item 2634070	NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)	SQSTM1 (L293V +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +2 more	GUncertain significance
Select item 1352802	NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)	SQSTM1 (A380V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 772074	NM_003900.5(SQSTM1):c.1165+9A>G	SQSTM1	Single nucleotide variant (intron variant)	SQSTM1-related disorder +2 more	GBenign/Likely benign
Select item 3054744	NM_003900.5(SQSTM1):c.1166-23T>C	SQSTM1	Single nucleotide variant (intron variant)	SQSTM1-related disorder	GLikely benign
Select item 1166392	NM_003900.5(SQSTM1):c.1166-14_1166-11del	SQSTM1	Deletion (intron variant)	SQSTM1-related disorder +3 more	GBenign/Likely benign
Select item 1578638	NM_003900.5(SQSTM1):c.1166-6C>T	SQSTM1	Single nucleotide variant (intron variant)	Paget disease of bone 2, early-onset +2 more	GLikely benign
Select item 475395	NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)	SQSTM1 (R393Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
Select item 1071292	NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)	SQSTM1 (M320V +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder +2 more	GPathogenic
Select item 1978925	NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)	SQSTM1 (Q334H +1 more)	Single nucleotide variant (missense variant)	SQSTM1-related disorder +2 more	GUncertain significance
Select item 542161	NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 844068	NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)	SQSTM1 (A342V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GUncertain significance
Select item 947710	NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)	SQSTM1 (P354L +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GUncertain significance
Select item 767165	NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)	SQSTM1	Single nucleotide variant (synonymous variant)	SQSTM1-related disorder +3 more	GBenign/Likely benign

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Items: 65