4869[geneid] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 1261516	NM_001355006.2(NPM1):c.-17+124A>T	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 133371	NM_002520.7(NPM1):c.-1G>T	NPM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided
Select item 3033346	NM_002520.7(NPM1):c.39G>A (p.Arg13=)	NPM1	Single nucleotide variant (synonymous variant +2 more)	NPM1-related disorder	GLikely benign
Select item 1268445	NM_002520.7(NPM1):c.58+115G>T	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656074	NM_002520.7(NPM1):c.90C>T (p.His30=)	NPM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3057493	NM_002520.7(NPM1):c.177T>C (p.Ile59=)	NPM1	Single nucleotide variant (synonymous variant +3 more)	NPM1-related disorder	GLikely benign
Select item 3344581	NM_002520.7(NPM1):c.192A>G (p.Ala64=)	NPM1	Single nucleotide variant (synonymous variant +3 more)	NPM1-related disorder	GLikely benign
Select item 1279345	NM_002520.7(NPM1):c.353-208C>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277189	NM_002520.7(NPM1):c.353-109_353-107del	NPM1	Deletion (intron variant)	not provided	GBenign
Select item 1280200	NM_002520.7(NPM1):c.353-107T>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134988	NM_002520.7(NPM1):c.362A>G (p.Glu121Gly)	NPM1 (E121G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134989	NM_002520.7(NPM1):c.428C>G (p.Ser143Cys)	NPM1 (S143C +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1275969	NM_002520.7(NPM1):c.460-31G>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134990	NM_002520.7(NPM1):c.476CTG[1] (p.Ala160del)	NPM1 (A160del +2 more)	Microsatellite (inframe_deletion)	not specified	Gnot provided
Select item 3351226	NM_002520.7(NPM1):c.495_497del (p.Asp168del)	NPM1 (D104del +2 more)	Deletion (inframe_deletion)	NPM1-related disorder	GUncertain significance
Select item 730555	NM_002520.7(NPM1):c.495C>T (p.Asp165=)	NPM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631984	NM_002520.7(NPM1):c.513TGA[2] (p.Asp173del)	NPM1 (D109del +2 more)	Microsatellite (inframe_deletion +1 more)	NPM1-related disorder	GUncertain significance
Select item 2242526	NM_002520.7(NPM1):c.513T>G (p.Asp171Glu)	NPM1 (D107E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443194	NM_002520.7(NPM1):c.522A>G (p.Glu174=)	NPM1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1287654	NM_002520.7(NPM1):c.524+42G>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226494	NM_002520.7(NPM1):c.525-42C>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290345	NM_002520.7(NPM1):c.525-39A>G	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694587	NM_002520.7(NPM1):c.523GAT[5] (p.Asp180del)	NPM1 (D116del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 694586	NM_002520.7(NPM1):c.532G>C (p.Asp178His)	NPM1 (D178H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336204	NM_002520.7(NPM1):c.543T>C (p.Phe181=)	NPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1270281	NM_002520.7(NPM1):c.582+265_582+266del	NPM1	Deletion (intron variant)	not provided	GBenign
Select item 2252756	NM_002520.7(NPM1):c.602C>A (p.Ala201Asp)	NPM1 (A201D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1273044	NM_002520.7(NPM1):c.670-119G>A	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264077	NM_002520.7(NPM1):c.670-63A>G	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656075	NM_002520.7(NPM1):c.672A>G (p.Gly224=)	NPM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2443195	NM_002520.7(NPM1):c.737A>G (p.Asp246Gly)	NPM1 (D119G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1235938	NM_002520.7(NPM1):c.771+230C>T	NPM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057997	NM_002520.7(NPM1):c.847-6_847-5dup	NPM1	Duplication (intron variant)	NPM1-related disorder	GLikely benign
Select item 3045006	NM_002520.7(NPM1):c.847-6_847-5del	NPM1	Deletion (intron variant)	NPM1-related disorder	GBenign
Select item 776102	NM_002520.7(NPM1):c.847-5T>C	NPM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 13998	NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)	NPM1 (W224fs +3 more)	Duplication (frameshift variant +1 more)	Myelodysplastic syndrome progressed to acute myeloid leukemia	GPathogenic
Select item 14001	NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs)	NPM1 (W161fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 14000	NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs)	NPM1 (W161fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 13999	NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs)	NPM1 (W161fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 376012	NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376011	NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376010	NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376009	NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 810668	NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs)	NPM1 (W259fs +3 more)	Indel (frameshift variant +1 more)	Acute myeloid leukemia with multilineage dysplasia	GPathogenic
Select item 632551	NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs)	NPM1 (W163fs +3 more)	Indel (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1701958	NM_002520.7(NPM1):c.875del (p.Lys292fs)	NPM1 (K165fs +3 more)	Deletion (frameshift variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1701938	NR_149149.2(NPM1):n.858_859del	NPM1	Deletion (non-coding transcript variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701937	NM_002520.7(NPM1):c.885A>G (p.Ter295=)	NPM1	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 1702956	NM_002520.7(NPM1):c.*1del	NPM1	Deletion (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701939	NM_002520.7(NPM1):c.*2A>G	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701944	NM_002520.7(NPM1):c.*29A>T	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701943	NM_002520.7(NPM1):c.*33T>C	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701945	NM_002520.7(NPM1):c.*73T>C	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701946	NM_002520.7(NPM1):c.*75C>T	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701940	NM_002520.7(NPM1):c.*76T>C	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701948	NM_002520.7(NPM1):c.*80T>A	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701949	NM_002520.7(NPM1):c.*81A>T	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701941	NM_002520.7(NPM1):c.*98C>T	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1701942	NM_002520.7(NPM1):c.*101T>C	NPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 684723	NC_000005.9:g.170814836_171100000dup	FGF18, NPM1	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 78