ClinVar for MedGen (Select 815798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779735	NM_002137.4(HNRNPA2B1):c.770A>G (p.Tyr257Cys)	HNRNPA2B1 (Y257C +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 3724074	NM_002137.4(HNRNPA2B1):c.722-9T>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 3716335	NM_002137.4(HNRNPA2B1):c.965-10A>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 3715761	NM_002137.4(HNRNPA2B1):c.644T>G (p.Phe215Cys)	HNRNPA2B1 (F215C +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 3713882	NM_002137.4(HNRNPA2B1):c.7-122dup	HNRNPA2B1 (T7fs)	Duplication (frameshift variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 3708162	NM_002137.4(HNRNPA2B1):c.476-18C>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 3707729	NM_002137.4(HNRNPA2B1):c.577+12dup	HNRNPA2B1	Duplication (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3705124	NM_002137.4(HNRNPA2B1):c.778GGA[1] (p.Gly261del)	HNRNPA2B1 (G261del +1 more)	Microsatellite	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 3705023	NM_002137.4(HNRNPA2B1):c.117+20G>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 3704679	NM_002137.4(HNRNPA2B1):c.927T>C (p.Phe309=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3703118	NM_002137.4(HNRNPA2B1):c.841+14C>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 3703037	NM_002137.4(HNRNPA2B1):c.948G>T (p.Gly316=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3701131	NM_002137.4(HNRNPA2B1):c.965-7A>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 3701091	NM_002137.4(HNRNPA2B1):c.118-14C>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 3700791	NM_002137.4(HNRNPA2B1):c.954A>T (p.Pro318=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3691218	NM_002137.4(HNRNPA2B1):c.264+6C>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 3691113	NM_002137.4(HNRNPA2B1):c.265-9C>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 3685206	NM_002137.4(HNRNPA2B1):c.825T>C (p.Tyr275=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3683361	NM_002137.4(HNRNPA2B1):c.491C>T (p.Thr164Ile)	HNRNPA2B1 (T164I +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 3677077	NM_002137.4(HNRNPA2B1):c.341A>C (p.His114Pro)	HNRNPA2B1 (H114P +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 3673202	NM_002137.4(HNRNPA2B1):c.658+4A>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 3670134	NM_002137.4(HNRNPA2B1):c.6+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 3668599	NM_002137.4(HNRNPA2B1):c.432C>G (p.Gly144=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3644042	NM_002137.4(HNRNPA2B1):c.1000_1001dup (p.Tyr335fs)	HNRNPA2B1 (Y347fs +1 more)	Duplication (frameshift variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 3641763	NM_002137.4(HNRNPA2B1):c.172T>G (p.Ser58Ala)	HNRNPA2B1 (S58A +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 3640631	NM_002137.4(HNRNPA2B1):c.476-8C>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 3639952	NM_002137.4(HNRNPA2B1):c.484T>C (p.Tyr162His)	HNRNPA2B1 (Y162H +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 3627352	NM_002137.4(HNRNPA2B1):c.475+16C>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 3626490	NM_002137.4(HNRNPA2B1):c.722-5A>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 3619780	NM_002137.4(HNRNPA2B1):c.965-4A>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 3615006	NM_002137.4(HNRNPA2B1):c.265-4T>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 3614304	NM_002137.4(HNRNPA2B1):c.588C>T (p.Gly196=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3613618	NM_002137.4(HNRNPA2B1):c.264+15_264+18del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3612191	NM_002137.4(HNRNPA2B1):c.7-146T>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 3609735	NM_002137.4(HNRNPA2B1):c.7-19A>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 3607431	NM_002137.4(HNRNPA2B1):c.118-9G>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 3606618	NM_002137.4(HNRNPA2B1):c.279A>G (p.Pro93=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3603591	NM_002137.4(HNRNPA2B1):c.265-15C>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 3603315	NM_002137.4(HNRNPA2B1):c.564G>A (p.Arg188=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 3594491	NM_002137.4(HNRNPA2B1):c.770_772del (p.Tyr257_Gly258delinsCys)	HNRNPA2B1	Deletion (inframe_indel)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GUncertain significance
Select item 3393559	NM_002137.4(HNRNPA2B1):c.7-133A>G	HNRNPA2B1 (K3R)	Single nucleotide variant (missense variant +1 more)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GUncertain significance
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)	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 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 2627175	NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser)	HNRNPA2B1 (N277S +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 (frameshift variant)	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

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