ClinVar for MedGen (Select 815798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	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 2633331	NM_002137.4(HNRNPA2B1):c.971A>G (p.Tyr324Cys)	HNRNPA2B1 (Y324C +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GUncertain significance
Select item 2574645	NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)	HNRNPA2B1 (G333fs +1 more)	Duplication	Myopathy, autophagic vacuolar, infantile-onset +1 more	GConflicting classifications of pathogenicity
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)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	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
Select item 2139214	NM_002137.4(HNRNPA2B1):c.33C>T (p.Leu11=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2116389	NM_002137.4(HNRNPA2B1):c.7-14A>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 2116015	NM_002137.4(HNRNPA2B1):c.964+9T>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 2114233	NM_002137.4(HNRNPA2B1):c.659-3C>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 2112327	NM_002137.4(HNRNPA2B1):c.129T>C (p.Asp43=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2106701	NM_002137.4(HNRNPA2B1):c.7-141C>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 2106277	NM_002137.4(HNRNPA2B1):c.721+16C>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 2072732	NM_002137.4(HNRNPA2B1):c.651A>T (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 2072547	NM_002137.4(HNRNPA2B1):c.476-16G>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 2068175	NM_002137.4(HNRNPA2B1):c.721+11C>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 2066969	NM_002137.4(HNRNPA2B1):c.813C>T (p.Tyr271=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2065007	NM_002137.4(HNRNPA2B1):c.658+10A>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 2054834	NM_002137.4(HNRNPA2B1):c.667G>T (p.Gly223Cys)	HNRNPA2B1 (G223C +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 2052373	NM_002137.4(HNRNPA2B1):c.864C>T (p.Tyr288=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2050986	NM_002137.4(HNRNPA2B1):c.265-20_265-19del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2049307	NM_002137.4(HNRNPA2B1):c.6+12G>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 2045921	NM_002137.4(HNRNPA2B1):c.6+12G>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 2043254	NM_002137.4(HNRNPA2B1):c.264+16C>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 2042629	NM_002137.4(HNRNPA2B1):c.192T>C (p.Asp64=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2041688	NM_002137.4(HNRNPA2B1):c.915G>A (p.Lys305=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2038168	NM_002137.4(HNRNPA2B1):c.7-143dup	HNRNPA2B1	Duplication (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GBenign

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