5031[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1238025	NC_000012.12:g.54280451A>G	HNRNPA1, LOC117038776	Single nucleotide variant	not provided	GBenign
Select item 2683203	NM_031157.4(HNRNPA1):c.11C>T (p.Ser4Leu)	HNRNPA1, LOC117038776 (S4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 705385	NM_031157.4(HNRNPA1):c.15+7T>C	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281374	NM_031157.4(HNRNPA1):c.16-57G>A	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3256957	NM_031157.4(HNRNPA1):c.16-4C>G	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789414	NM_031157.4(HNRNPA1):c.24A>G (p.Lys8=)	HNRNPA1, LOC117038776	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797107	NM_031157.4(HNRNPA1):c.90G>A (p.Leu30=)	HNRNPA1, LOC117038776	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432498	NM_031157.4(HNRNPA1):c.127dup (p.Cys43fs)	HNRNPA1, LOC117038776 (C43fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 261941	NM_031157.4(HNRNPA1):c.133-17A>G	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3058851	NM_031157.4(HNRNPA1):c.213T>C (p.Ala71=)	HNRNPA1, LOC117038776	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 1333611	NM_031157.4(HNRNPA1):c.240_243del (p.Asp80fs)	HNRNPA1, LOC117038776 (D80fs)	Microsatellite (frameshift variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	GUncertain significance
Select item 3048056	NM_031157.4(HNRNPA1):c.279+9G>A	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	HNRNPA1-related disorder	GLikely benign
Select item 3043203	NM_031157.4(HNRNPA1):c.279+10T>G	HNRNPA1, LOC117038776	Single nucleotide variant (intron variant)	HNRNPA1-related disorder	GLikely benign
Select item 3031753	NM_031157.4(HNRNPA1):c.435A>G (p.Lys145=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 3032895	NM_031157.4(HNRNPA1):c.447C>T (p.Ala149=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 3052369	NM_031157.4(HNRNPA1):c.462C>T (p.Asp154=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 773929	NM_031157.4(HNRNPA1):c.486T>C (p.Ile162=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1209889	NM_031157.4(HNRNPA1):c.491-3dup	HNRNPA1	Duplication (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 +1 more	GLikely benign
Select item 932334	NM_031157.4(HNRNPA1):c.507T>G (p.Thr169=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 806897	NM_031157.4(HNRNPA1):c.512A>T (p.Asn171Ile)	HNRNPA1 (N171I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358162	NM_031157.4(HNRNPA1):c.516C>T (p.Gly172=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 3352765	NM_031157.4(HNRNPA1):c.531T>G (p.Val177=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 704028	NM_031157.4(HNRNPA1):c.546A>G (p.Ser182=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3026538	NM_031157.4(HNRNPA1):c.583+5G>C	HNRNPA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 742666	NM_031157.4(HNRNPA1):c.597T>C (p.Ser199=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 706171	NM_031157.4(HNRNPA1):c.630C>T (p.Phe210=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 706889	NM_031157.4(HNRNPA1):c.631G>A (p.Gly211Ser)	HNRNPA1 (G211S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 705020	NM_031157.4(HNRNPA1):c.639T>C (p.Asn213=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432500	NM_031157.4(HNRNPA1):c.648C>G (p.Phe216Leu)	HNRNPA1 (F216L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432503	NM_031157.4(HNRNPA1):c.649G>A (p.Gly217Ser)	HNRNPA1 (G217S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3106373	NM_031157.4(HNRNPA1):c.667A>G (p.Ser223Gly)	HNRNPA1 (S223G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284540	NM_031157.4(HNRNPA1):c.671G>T (p.Gly224Val)	HNRNPA1 (G224V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643054	NM_031157.4(HNRNPA1):c.676+35C>G	HNRNPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046342	NM_031157.4(HNRNPA1):c.677-9T>G	HNRNPA1	Single nucleotide variant (intron variant)	HNRNPA1-related disorder	GLikely benign
Select item 2689218	NM_031157.4(HNRNPA1):c.696TGG[3] (p.Gly236del)	HNRNPA1 (G236del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2432504	NM_031157.4(HNRNPA1):c.703G>A (p.Gly235Ser)	HNRNPA1 (G235S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068676	NM_031157.4(HNRNPA1):c.743G>A (p.Gly248Asp)	HNRNPA1 (G248D)	Single nucleotide variant (missense variant +1 more)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	GUncertain significance
Select item 1286864	NM_031157.4(HNRNPA1):c.751+90A>G	HNRNPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2643055	NM_031157.4(HNRNPA1):c.786A>T (p.Gly262=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432501	NM_031157.4(HNRNPA1):c.809G>T (p.Gly270Val)	HNRNPA1 (G270V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2359563	NM_031157.4(HNRNPA1):c.812G>C (p.Gly271Ala)	HNRNPA1 (G271A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030729	NM_031157.4(HNRNPA1):c.846C>T (p.Gly282=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 3106374	NM_031157.4(HNRNPA1):c.869A>G (p.Tyr290Cys)	HNRNPA1 (Y290C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432494	NM_031157.4(HNRNPA1):c.873C>G (p.Asn291Lys)	HNRNPA1 (N291K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432493	NM_031157.4(HNRNPA1):c.874_877dup (p.Gly293fs)	HNRNPA1 (G293fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3345656	NM_031157.4(HNRNPA1):c.874_875delinsGG (p.Asn292Gly)	HNRNPA1 (N292G)	Indel (missense variant +1 more)	HNRNPA1-related disorder	GUncertain significance
Select item 2519987	NM_031157.4(HNRNPA1):c.875A>G (p.Asn292Ser)	HNRNPA1 (N292S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3358429	NM_031157.4(HNRNPA1):c.876C>T (p.Asn292=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 707794	NM_031157.4(HNRNPA1):c.879AGGCGG[1] (p.Gly296_Gly297del)	HNRNPA1	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 432489	NM_031157.4(HNRNPA1):c.876C>G (p.Asn292Lys)	HNRNPA1 (N292K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432497	NM_031157.4(HNRNPA1):c.889G>A (p.Gly297Ser)	HNRNPA1 (G297S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3358557	NM_031157.4(HNRNPA1):c.897C>T (p.Gly299=)	HNRNPA1	Single nucleotide variant (synonymous variant +1 more)	HNRNPA1-related disorder	GLikely benign
Select item 2631245	NM_031157.4(HNRNPA1):c.898G>T (p.Gly300Cys)	HNRNPA1 (G300C)	Single nucleotide variant (missense variant +1 more)	HNRNPA1-related disorder	GUncertain significance
Select item 3346185	NM_031157.4(HNRNPA1):c.908-5C>T	HNRNPA1	Single nucleotide variant (intron variant)	HNRNPA1-related disorder	GUncertain significance
Select item 135590	NM_031157.4(HNRNPA1):c.911G>A (p.Ser304Asn)	HNRNPA1 (S304N +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GUncertain significance
Select item 2689217	NM_031157.4(HNRNPA1):c.914A>G (p.Asn305Ser)	HNRNPA1 (N253S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135591	NM_031157.4(HNRNPA1):c.931A>G (p.Ser311Gly)	HNRNPA1 (S311G +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GUncertain significance
Select item 65452	NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)	HNRNPA1 (D314N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 65451	NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)	HNRNPA1 (D314V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 135592	NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu)	HNRNPA1 (F315L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135593	NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp)	HNRNPA1 (N317D +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 3346151	NM_031157.4(HNRNPA1):c.954C>G (p.Tyr318Ter)	HNRNPA1 (Y266* +1 more)	Single nucleotide variant (nonsense +1 more)	HNRNPA1-related disorder	GUncertain significance
Select item 65453	NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser)	HNRNPA1 (N319S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432502	NM_031157.4(HNRNPA1):c.959A>T (p.Asn320Ile)	HNRNPA1 (N268I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432495	NM_031157.4(HNRNPA1):c.959A>G (p.Asn320Ser)	HNRNPA1 (N268S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320479	NM_031157.4(HNRNPA1):c.970A>C (p.Asn324His)	HNRNPA1 (N272H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135595	NM_031157.4(HNRNPA1):c.973T>G (p.Phe325Val)	HNRNPA1 (F325V +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GPathogenic
Select item 135594	NM_031157.4(HNRNPA1):c.973T>C (p.Phe325Leu)	HNRNPA1 (F325L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GPathogenic
Select item 135596	NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser)	HNRNPA1 (P327S +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135597	NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu)	HNRNPA1 (M328L +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GLikely pathogenic
Select item 135598	NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn)	HNRNPA1 (K329N +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 2632704	NM_031157.4(HNRNPA1):c.992G>A (p.Gly331Glu)	HNRNPA1 (G279E +1 more)	Single nucleotide variant (missense variant +1 more)	HNRNPA1-related disorder	GUncertain significance
Select item 135599	NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser)	HNRNPA1 (N332S +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GLikely pathogenic
Select item 135600	NM_031157.4(HNRNPA1):c.997T>C (p.Phe333Leu)	HNRNPA1 (F333L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GPathogenic
Select item 135601	NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly)	HNRNPA1 (R336G +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135602	NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly)	HNRNPA1 (S337G +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 637023	NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala)	HNRNPA1 (P288A +1 more)	Single nucleotide variant (missense variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	GLikely pathogenic
Select item 2432496	NM_031157.4(HNRNPA1):c.1027G>A (p.Gly343Ser)	HNRNPA1 (G291S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135603	NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys)	HNRNPA1 (Y347C +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135604	NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu)	HNRNPA1 (F348L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135605	NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu)	HNRNPA1 (P351L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135606	NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter)	HNRNPA1 (R352* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 135607	NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp)	HNRNPA1 (N353D +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 135608	NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser)	HNRNPA1 (N353S +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely pathogenic
Select item 870578	NM_031157.4(HNRNPA1):c.1063+15_*5-68del	HNRNPA1	Deletion (splice acceptor variant +1 more)	HNRNPA1-related multisystem proteinopathy	GUncertain significance
Select item 2575312	NM_031157.4(HNRNPA1):c.1064-63_*4+37del	HNRNPA1	Deletion (splice acceptor variant +1 more)	Finnish upper limb-onset distal myopathy	GPathogenic
Select item 1226405	NM_031157.4(HNRNPA1):c.1064-62C>T	HNRNPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2432499	NM_031157.4(HNRNPA1):c.1066G>A (p.Gly356Ser)	HNRNPA1 (G304S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 135609	NM_031157.4(HNRNPA1):c.1078T>G (p.Ser360Ala)	HNRNPA1 (S360A +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely benign
Select item 135610	NM_031157.4(HNRNPA1):c.1093A>G (p.Ser365Gly)	HNRNPA1 (S365G +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GLikely benign
Select item 135611	NM_031157.4(HNRNPA1):c.1096T>C (p.Tyr366His)	HNRNPA1 (Y366H +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GLikely benign
Select item 135612	NM_031157.4(HNRNPA1):c.1097A>G (p.Tyr366Cys)	HNRNPA1 (Y366C +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely benign
Select item 1677313	NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser)	HNRNPA1 (G315S +1 more)	Single nucleotide variant (missense variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	GUncertain significance
Select item 135613	NM_031157.4(HNRNPA1):c.1106G>A (p.Gly369Asp)	HNRNPA1 (G369D +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely benign
Select item 135614	NM_031157.4(HNRNPA1):c.1111A>G (p.Arg371Gly)	HNRNPA1 (R371G +1 more)	Single nucleotide variant (missense variant +1 more)	Relapsing remitting multiple sclerosis	GLikely benign
Select item 2683801	NM_031157.4(HNRNPA1):c.1113_*2delinsTAA (p.Arg371_Ter373delinsSerXaa)	HNRNPA1	Indel (stop lost +1 more)	Distal myopathy	GLikely pathogenic
Select item 135615	NM_031157.4(HNRNPA1):c.1114T>C (p.Phe372Leu)	HNRNPA1 (F372L +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic progressive multiple sclerosis	GLikely benign
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	GUncertain significance

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