3181[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 151979	GRCh38/hg38 7p15.2(chr7:25903388-27022498)x1	CBX3, HNRNPA2B1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2657355	NM_004289.7(NFE2L3):c.1418G>C (p.Ser473Thr)	HNRNPA2B1, NFE2L3 (S473T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 2574642	NM_002137.4(HNRNPA2B1):c.992del (p.Gly331fs)	HNRNPA2B1 (G331fs +1 more)	Deletion (frameshift variant)	Oculopharyngeal muscular dystrophy 2	GPathogenic
Select item 541427	NM_002137.4(HNRNPA2B1):c.984_992del (p.329_331SGG[1])	HNRNPA2B1	Deletion (inframe_deletion)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 1568882	NM_002137.4(HNRNPA2B1):c.987T>C (p.Ser329=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 2008303	NM_002137.4(HNRNPA2B1):c.980_986del (p.Gly327fs)	HNRNPA2B1 (G327fs +1 more)	Deletion (frameshift variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GUncertain significance
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 2574643	NM_002137.4(HNRNPA2B1):c.981del (p.Gly328fs)	HNRNPA2B1 (G328fs +1 more)	Deletion (frameshift variant)	Oculopharyngeal muscular dystrophy 2	GPathogenic
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 1985593	NM_002137.4(HNRNPA2B1):c.966A>G (p.Gly322=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 1178344	NM_002137.4(HNRNPA2B1):c.965G>A (p.Gly322Glu)	HNRNPA2B1 (G322E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 1406853	NM_002137.4(HNRNPA2B1):c.965-3T>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 2019827	NM_002137.4(HNRNPA2B1):c.965-13C>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 1261398	NM_002137.4(HNRNPA2B1):c.965-170A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188612	NM_002137.4(HNRNPA2B1):c.965-199A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215343	NM_002137.4(HNRNPA2B1):c.965-264T>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181559	NM_002137.4(HNRNPA2B1):c.964+288T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186903	NM_002137.4(HNRNPA2B1):c.964+269C>A	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181244	NM_002137.4(HNRNPA2B1):c.964+244A>C	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198980	NM_002137.4(HNRNPA2B1):c.964+64_964+68del	HNRNPA2B1	Deletion (intron variant)	not provided	GLikely benign
Select item 1625998	NM_002137.4(HNRNPA2B1):c.964+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 704601	NM_002137.4(HNRNPA2B1):c.964+10A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 +1 more	GBenign/Likely 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 1611021	NM_002137.4(HNRNPA2B1):c.964+9del	HNRNPA2B1	Deletion (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 858196	NM_002137.4(HNRNPA2B1):c.964+5T>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 1402601	NM_002137.4(HNRNPA2B1):c.948_950del (p.Gly317del)	HNRNPA2B1 (G317del +1 more)	Deletion (inframe_deletion)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 1924249	NM_002137.4(HNRNPA2B1):c.943A>G (p.Met315Val)	HNRNPA2B1 (M315V +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 1612413	NM_002137.4(HNRNPA2B1):c.939G>A (p.Arg313=)	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 810077	NM_002137.4(HNRNPA2B1):c.928GGT[1] (p.Gly311del)	HNRNPA2B1 (G311del +1 more)	Microsatellite (inframe_deletion)	not provided +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 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 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 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 1441499	NM_002137.4(HNRNPA2B1):c.902A>T (p.Tyr301Phe)	HNRNPA2B1 (Y301F +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 1501742	NM_002137.4(HNRNPA2B1):c.893C>T (p.Pro298Leu)	HNRNPA2B1 (P310L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely pathogenic
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 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 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 65454	NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val)	HNRNPA2B1 (D290V +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GPathogenic
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 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 1478408	NM_002137.4(HNRNPA2B1):c.853A>G (p.Ser285Gly)	HNRNPA2B1 (S285G +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 1161696	NM_002137.4(HNRNPA2B1):c.852A>G (p.Gly284=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 1610080	NM_002137.4(HNRNPA2B1):c.843A>C (p.Gly281=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 750886	NM_002137.4(HNRNPA2B1):c.842-11dup	HNRNPA2B1	Duplication (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 1119401	NM_002137.4(HNRNPA2B1):c.842-8T>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 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 2032278	NM_002137.4(HNRNPA2B1):c.842-12A>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 1583205	NM_002137.4(HNRNPA2B1):c.842-12A>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 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 1960102	NM_002137.4(HNRNPA2B1):c.842-18A>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 2028170	NM_002137.4(HNRNPA2B1):c.842-20G>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 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 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 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 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 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 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 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 2029159	NM_002137.4(HNRNPA2B1):c.809_811dup (p.Gly270_Tyr271insCys)	HNRNPA2B1	Duplication (inframe_insertion)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 474504	NM_002137.4(HNRNPA2B1):c.797A>G (p.Asn266Ser)	HNRNPA2B1 (N278S +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 1515178	NM_002137.4(HNRNPA2B1):c.779G>C (p.Gly260Ala)	HNRNPA2B1 (G272A +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 1469236	NM_002137.4(HNRNPA2B1):c.763GGA[1] (p.Gly256del)	HNRNPA2B1 (G268del +1 more)	Microsatellite (inframe_deletion)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GUncertain significance
Select item 704090	NM_002137.4(HNRNPA2B1):c.756A>C (p.Gly252=)	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 1500986	NM_002137.4(HNRNPA2B1):c.745G>A (p.Gly249Ser)	HNRNPA2B1 (G261S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 474503	NM_002137.4(HNRNPA2B1):c.744C>T (p.Pro248=)	HNRNPA2B1	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GLikely benign
Select item 1132450	NM_002137.4(HNRNPA2B1):c.738T>C (p.Gly246=)	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 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 1312367	NM_002137.4(HNRNPA2B1):c.724G>T (p.Gly242Cys)	HNRNPA2B1 (G242C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1198738	NM_002137.4(HNRNPA2B1):c.722-194T>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191497	NM_002137.4(HNRNPA2B1):c.722-277A>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253344	NM_002137.4(HNRNPA2B1):c.722-336T>G	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234359	NM_002137.4(HNRNPA2B1):c.721+123G>T	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261608	NM_002137.4(HNRNPA2B1):c.721+54C>T	HNRNPA2B1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1633968	NM_002137.4(HNRNPA2B1):c.721+19T>C	HNRNPA2B1	Single nucleotide variant (intron variant)	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	GBenign
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

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