ClinVar for MedGen (Select 895927) - ClinVar

Links from MedGen

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1248589	NM_003900.5(SQSTM1):c.755-23G>A	SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +4 more	GBenign
Select item 907442	NM_016175.4(MRNIP):c.557G>A (p.Trp186Ter)	MRNIP, SQSTM1 (W131* +1 more)	Single nucleotide variant (nonsense +1 more)	Paget disease of bone 3	GUncertain significance
Select item 907441	NM_016175.4(MRNIP):c.689C>T (p.Ala230Val)	MRNIP, SQSTM1 (A230V +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 907325	NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)	SQSTM1 (S59R +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
Select item 907324	NM_003900.5(SQSTM1):c.301+12C>G	SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GBenign/Likely benign
Select item 907323	NM_003900.5(SQSTM1):c.239A>G (p.Asp80Gly)	SQSTM1 (D80G)	Single nucleotide variant (5 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 906448	NM_016175.4(MRNIP):c.*12C>T	SQSTM1, MRNIP	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GLikely benign
Select item 906447	NM_016175.4(MRNIP):c.*76A>G	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 906446	NM_016175.4(MRNIP):c.*88C>G	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 906445	NM_003900.5(SQSTM1):c.*624T>G	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	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 906314	NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)	SQSTM1 (A17V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	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 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 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 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_016175.4(MRNIP):c.538-102G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 904121	NM_016175.4(MRNIP):c.538-61G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 904055	NM_003900.5(SQSTM1):c.*82C>T	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 904054	NM_003900.5(SQSTM1):c.*66A>C	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GLikely benign
Select item 904053	NM_003900.5(SQSTM1):c.*39C>G	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 903993	NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile)	SQSTM1 (T185I +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 3	GUncertain significance
Select item 903992	NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 903991	NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +2 more	GConflicting classifications of pathogenicity
Select item 851619	NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)	SQSTM1 (P355L +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
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 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 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 650222	NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)	SQSTM1 (D245G +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +3 more	GUncertain significance
Select item 644487	NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)	SQSTM1 (R133C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
Select item 578482	NM_003900.5(SQSTM1):c.1166-5G>A	SQSTM1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GUncertain significance
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 542164	NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +7 more	GBenign/Likely benign
Select item 542162	NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 475410	NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +7 more	GBenign/Likely benign
Select item 475409	NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +3 more	GBenign
Select item 475403	NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)	SQSTM1 (K238E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GBenign/Likely benign
Select item 475397	NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +3 more	GBenign/Likely benign
Select item 448531	NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GConflicting classifications of pathogenicity
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 353188	NM_016175.4(MRNIP):c.538-188G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353187	NM_016175.4(MRNIP):c.538-44G>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GUncertain significance
Select item 353186	NM_016175.4(MRNIP):c.538-30C>A	MRNIP, SQSTM1	Single nucleotide variant (3 prime UTR variant +1 more)	Paget disease of bone 3	GBenign
Select item 353184	NM_016175.4(MRNIP):c.595A>G (p.Asn199Asp)	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_016175.4(MRNIP):c.692A>G (p.Gln231Arg)	MRNIP, SQSTM1 (Q231R +1 more)	Single nucleotide variant (missense variant +1 more)	Paget disease of bone 3	GBenign
Select item 353181	NM_016175.4(MRNIP):c.719C>G (p.Ser240Ter)	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	GLikely benign
Select item 353179	NM_016175.4(MRNIP):c.843C>T (p.Ala281=)	MRNIP, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 3	GUncertain significance
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 353176	NM_003900.5(SQSTM1):c.*539T>G	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GBenign
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)	Paget disease of bone 3 +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 353170	NM_003900.5(SQSTM1):c.*175T>G	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353168	NM_003900.5(SQSTM1):c.*83G>A	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GLikely benign
Select item 353167	NM_003900.5(SQSTM1):c.*60C>T	SQSTM1	Single nucleotide variant (3 prime UTR variant)	Paget disease of bone 3	GUncertain significance
Select item 353166	NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)	SQSTM1 (G236E +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +3 more	GUncertain significance
Select item 353165	NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)	SQSTM1 (E235K +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 2, early-onset +4 more	GBenign
Select item 353164	NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +2 more	GConflicting classifications of pathogenicity
Select item 353163	NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +2 more	GBenign/Likely 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 353161	NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +2 more	GConflicting classifications of pathogenicity
Select item 353160	NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 3 +2 more	GConflicting classifications of pathogenicity
Select item 353159	NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)	SQSTM1 (R22W +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +3 more	GUncertain significance
Select item 353158	NM_003900.5(SQSTM1):c.253A>G (p.Met85Val)	SQSTM1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	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)	not provided +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
Select item 353154	NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)	SQSTM1 (S28R)	Single nucleotide variant (intron variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more	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 353152	NM_003900.5(SQSTM1):c.-25G>A	SQSTM1	Single nucleotide variant (intron variant +1 more)	Paget disease of bone 3	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 259192	NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 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 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 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 259187	NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)	SQSTM1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 2, early-onset +5 more	GConflicting classifications of pathogenicity
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 202210	NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter)	SQSTM1 (K378* +1 more)	Single nucleotide variant (nonsense)	Paget disease of bone 3	GPathogenic
Select item 8110	NM_003900.5(SQSTM1):c.1165+1G>A	SQSTM1	Single nucleotide variant (splice donor variant)	Paget disease of bone 2, early-onset +1 more	GPathogenic
Select item 8109	NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter)	SQSTM1 (E325* +1 more)	Duplication (nonsense)	Paget disease of bone 3	GPathogenic
Select item 8108	NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	SQSTM1 (P392L +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 3 +6 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 89