"PreventionGenetics, part of Exact Sciences"[submitter] AND "HNRNPA2B1 - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3032723	NM_002137.4(HNRNPA2B1):c.*3TTC[1]	HNRNPA2B1	Microsatellite (3 prime UTR variant)	HNRNPA2B1-related disorder	GLikely benign
Select item 1234745	NM_002137.4(HNRNPA2B1):c.*4T>G	HNRNPA2B1	Single nucleotide variant (3 prime UTR variant)	HNRNPA2B1-related disorder +1 more	GBenign
Select item 261952	NM_002137.4(HNRNPA2B1):c.1002T>G (p.Gly334=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 705959	NM_002137.4(HNRNPA2B1):c.984C>A (p.Gly328=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	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 704601	NM_002137.4(HNRNPA2B1):c.964+10A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	HNRNPA2B1-related disorder +1 more	GBenign/Likely benign
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 1599601	NM_002137.4(HNRNPA2B1):c.906T>A (p.Gly302=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GBenign/Likely benign
Select item 786769	NM_002137.4(HNRNPA2B1):c.903C>T (p.Tyr301=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GLikely benign
Select item 541429	NM_002137.4(HNRNPA2B1):c.841+6A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +2 more	GBenign
Select item 758964	NM_002137.4(HNRNPA2B1):c.658+9C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	HNRNPA2B1-related disorder +1 more	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 261955	NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1512360	NM_002137.4(HNRNPA2B1):c.625CCAGGA[1] (p.209PG[1])	HNRNPA2B1	Microsatellite (inframe_deletion)	HNRNPA2B1-related disorder +1 more	GUncertain significance
Select item 704292	NM_002137.4(HNRNPA2B1):c.610G>A (p.Gly204Ser)	HNRNPA2B1 (G204S +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GLikely benign
Select item 261954	NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +2 more	GBenign
Select item 1979421	NM_002137.4(HNRNPA2B1):c.369T>C (p.Tyr123=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GLikely benign
Select item 1635264	NM_002137.4(HNRNPA2B1):c.348T>C (p.Leu116=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GLikely benign
Select item 772754	NM_002137.4(HNRNPA2B1):c.330T>C (p.Asp110=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GLikely benign
Select item 541430	NM_002137.4(HNRNPA2B1):c.288T>C (p.His96=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +2 more	GBenign
Select item 1150367	NM_002137.4(HNRNPA2B1):c.255A>T (p.Val85=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	HNRNPA2B1-related disorder +1 more	GLikely benign
Select item 704997	NM_002137.4(HNRNPA2B1):c.243A>G (p.Pro81=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GBenign/Likely benign
Select item 1123541	NM_002137.4(HNRNPA2B1):c.240G>A (p.Glu80=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GLikely benign
Select item 261953	NM_002137.4(HNRNPA2B1):c.117+4T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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Items: 25