ClinVar for Gene (Select 3181) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 353

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358296	NM_002137.4(HNRNPA2B1):c.-5C>T	HNRNPA2B1	Single nucleotide variant (5 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3354469	NM_002137.4(HNRNPA2B1):c.-6T>G	HNRNPA2B1	Single nucleotide variant (5 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3351205	NM_002137.4(HNRNPA2B1):c.*7del	HNRNPA2B1	Deletion (3 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3348087	NM_002137.4(HNRNPA2B1):c.78G>T (p.Arg26Ser)	HNRNPA2B1 (R26S +1 more)	Single nucleotide variant (missense variant)	HNRNPA2B1-related disorder	GUncertain significance
Select item 3346620	NM_002137.4(HNRNPA2B1):c.432C>T (p.Gly144=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3338897	NM_002137.4(HNRNPA2B1):c.264+5_264+6dup	HNRNPA2B1	Duplication (intron variant)	not specified	GUncertain significance
Select item 3245865	NC_000007.13:g.(?_26232136)_(28172587_?)del	CBX3, EVX1 +22 more	Deletion	not provided	GPathogenic
Select item 3235032	NM_002137.4(HNRNPA2B1):c.476-4C>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 3106379	NM_002137.4(HNRNPA2B1):c.814G>A (p.Gly272Arg)	HNRNPA2B1 (G272R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3051995	NM_002137.4(HNRNPA2B1):c.*9C>A	HNRNPA2B1	Single nucleotide variant (3 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3045567	NM_002137.4(HNRNPA2B1):c.658+7_658+8del	HNRNPA2B1	Deletion (intron variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3032723	NM_002137.4(HNRNPA2B1):c.*3TTC[1]	HNRNPA2B1	Microsatellite (3 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3014030	NM_002137.4(HNRNPA2B1):c.578-12C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3012733	NM_002137.4(HNRNPA2B1):c.658+13T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3012315	NM_002137.4(HNRNPA2B1):c.728A>G (p.Asn243Ser)	HNRNPA2B1 (N255S +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 3005226	NM_002137.4(HNRNPA2B1):c.476-22_476-20del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2993821	NM_002137.4(HNRNPA2B1):c.578-16G>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2979980	NM_002137.4(HNRNPA2B1):c.7-147T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2975400	NM_002137.4(HNRNPA2B1):c.384C>A (p.Thr128=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2973245	NM_002137.4(HNRNPA2B1):c.735A>T (p.Gly245=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2969886	NM_002137.4(HNRNPA2B1):c.882T>C (p.Tyr294=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2964868	NM_002137.4(HNRNPA2B1):c.546G>A (p.Gln182=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2958555	NM_002137.4(HNRNPA2B1):c.842-15C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2914851	NM_002137.4(HNRNPA2B1):c.609C>T (p.Gly203=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2914103	NM_002137.4(HNRNPA2B1):c.7-90C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2910252	NM_002137.4(HNRNPA2B1):c.638G>A (p.Ser213Asn)	HNRNPA2B1 (S213N +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2893481	NM_002137.4(HNRNPA2B1):c.476-19T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2877216	NM_002137.4(HNRNPA2B1):c.315C>A (p.Gly105=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2862982	NM_002137.4(HNRNPA2B1):c.602G>A (p.Arg201His)	HNRNPA2B1 (R213H +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2856177	NM_002137.4(HNRNPA2B1):c.7-145_7-143del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GBenign
Select item 2854739	NM_002137.4(HNRNPA2B1):c.842-6T>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2854326	NM_002137.4(HNRNPA2B1):c.659-11G>C	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2849286	NM_002137.4(HNRNPA2B1):c.817G>A (p.Gly273Ser)	HNRNPA2B1 (G273S +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2838853	NM_002137.4(HNRNPA2B1):c.612T>C (p.Gly204=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2822662	NM_002137.4(HNRNPA2B1):c.938G>A (p.Arg313Lys)	HNRNPA2B1 (R313K +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2814165	NM_002137.4(HNRNPA2B1):c.577+18_577+21del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2812022	NM_002137.4(HNRNPA2B1):c.659-16T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2808488	NM_002137.4(HNRNPA2B1):c.7-137C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2803775	NM_002137.4(HNRNPA2B1):c.659-13del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GBenign
Select item 2803543	NM_002137.4(HNRNPA2B1):c.651A>G (p.Gly217=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2800373	NM_002137.4(HNRNPA2B1):c.391A>T (p.Ile131Leu)	HNRNPA2B1 (I143L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2794599	NM_002137.4(HNRNPA2B1):c.721+19T>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2790321	NM_002137.4(HNRNPA2B1):c.658+18C>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2784536	NM_002137.4(HNRNPA2B1):c.885C>T (p.Asn295=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2779489	NM_002137.4(HNRNPA2B1):c.7-132A>G	HNRNPA2B1	Single nucleotide variant (synonymous variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2761404	NM_002137.4(HNRNPA2B1):c.117+8A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2755805	NM_002137.4(HNRNPA2B1):c.655T>G (p.Ser219Ala)	HNRNPA2B1 (S219A +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2753529	NM_002137.4(HNRNPA2B1):c.264+17T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2753085	NM_002137.4(HNRNPA2B1):c.574G>A (p.Gly192Arg)	HNRNPA2B1 (G192R +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2747660	NM_002137.4(HNRNPA2B1):c.264+20C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2740315	NM_002137.4(HNRNPA2B1):c.475+17A>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2727135	NM_002137.4(HNRNPA2B1):c.525T>C (p.Ala175=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2724757	NM_002137.4(HNRNPA2B1):c.417G>A (p.Lys139=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2718458	NM_002137.4(HNRNPA2B1):c.910A>G (p.Met304Val)	HNRNPA2B1 (M304V +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2713132	NM_002137.4(HNRNPA2B1):c.171T>C (p.Phe57=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2707960	NM_002137.4(HNRNPA2B1):c.476-8C>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2657355	NC_000007.14:g.26185116G>C	HNRNPA2B1, NFE2L3 (S473T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2633331	NM_002137.4(HNRNPA2B1):c.971A>G (p.Tyr324Cys)	HNRNPA2B1 (Y324C +1 more)	Single nucleotide variant (missense variant)	HNRNPA2B1-related disorder +1 more	GUncertain significance
Select item 2632897	NM_002137.4(HNRNPA2B1):c.932G>A (p.Gly311Asp)	HNRNPA2B1 (G311D +1 more)	Single nucleotide variant (missense variant)	HNRNPA2B1-related disorder	GUncertain significance
Select item 2627175	NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser)	HNRNPA2B1 (N277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615867	NM_002137.4(HNRNPA2B1):c.92A>T (p.Gln31Leu)	HNRNPA2B1 (Q43L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574645	NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)	HNRNPA2B1 (G333fs +1 more)	Duplication	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2574644	NM_002137.4(HNRNPA2B1):c.968del (p.Asn323fs)	HNRNPA2B1 (N323fs +1 more)	Deletion	Oculopharyngeal muscular dystrophy 2	GPathogenic
Select item 2574643	NM_002137.4(HNRNPA2B1):c.981del (p.Gly328fs)	HNRNPA2B1 (G328fs +1 more)	Deletion (frameshift variant)	Oculopharyngeal muscular dystrophy 2	GPathogenic
Select item 2574642	NM_002137.4(HNRNPA2B1):c.992del (p.Gly331fs)	HNRNPA2B1 (G331fs +1 more)	Deletion (frameshift variant)	Oculopharyngeal muscular dystrophy 2	GPathogenic
Select item 2431717	NM_002137.4(HNRNPA2B1):c.1001del (p.Gly334fs)	HNRNPA2B1 (G334fs +1 more)	Deletion (frameshift variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2426966	NC_000007.13:g.(?_26232136)_(26236121_?)dup	HNRNPA2B1	Duplication	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2426965	NC_000007.13:g.(?_26237222)_(26240197_?)dup	HNRNPA2B1	Duplication	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2426964	NC_000007.13:g.(?_26240172)_(26240197_?)del	HNRNPA2B1	Deletion	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2426963	NC_000007.13:g.(?_26232136)_(26240197_?)del	HNRNPA2B1	Deletion	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2413845	NM_002137.4(HNRNPA2B1):c.264+13T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2413844	NM_002137.4(HNRNPA2B1):c.475+18A>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2198545	NM_002137.4(HNRNPA2B1):c.7-146_7-143del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2194655	NM_002137.4(HNRNPA2B1):c.444T>C (p.Phe148=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2194439	NM_002137.4(HNRNPA2B1):c.578-18C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2188975	NM_002137.4(HNRNPA2B1):c.722-17G>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2185483	NM_002137.4(HNRNPA2B1):c.687G>A (p.Gly229=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2181694	NM_002137.4(HNRNPA2B1):c.483A>G (p.Lys161=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2173770	NM_002137.4(HNRNPA2B1):c.318A>T (p.Gly106=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2171441	NM_002137.4(HNRNPA2B1):c.265-15C>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2170505	NM_002137.4(HNRNPA2B1):c.7-81C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2170211	NM_002137.4(HNRNPA2B1):c.118-14C>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2164270	NM_002137.4(HNRNPA2B1):c.722-15C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2162438	NM_002137.4(HNRNPA2B1):c.475+3A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2157944	NM_002137.4(HNRNPA2B1):c.475+9C>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2157532	NM_002137.4(HNRNPA2B1):c.265-16C>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2157531	NM_002137.4(HNRNPA2B1):c.265-16_265-15insA	HNRNPA2B1	Insertion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2157366	NM_002137.4(HNRNPA2B1):c.833A>G (p.Tyr278Cys)	HNRNPA2B1 (Y278C +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2155072	NM_002137.4(HNRNPA2B1):c.996T>C (p.Ser332=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2151124	NM_002137.4(HNRNPA2B1):c.722-20A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2150179	NM_002137.4(HNRNPA2B1):c.866A>G (p.Asn289Ser)	HNRNPA2B1 (N301S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2146792	NM_002137.4(HNRNPA2B1):c.841+16G>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2146308	NM_002137.4(HNRNPA2B1):c.892C>T (p.Pro298Ser)	HNRNPA2B1 (P298S +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 2145894	NM_002137.4(HNRNPA2B1):c.475+10T>A	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2142827	NM_002137.4(HNRNPA2B1):c.87C>T (p.Tyr29=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2141857	NM_002137.4(HNRNPA2B1):c.45C>G (p.Gly15=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2140605	NM_002137.4(HNRNPA2B1):c.842-9T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign

<< First< Prev

Page of 4