HBD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 15061	NC_000011.10:g.5226570_5233984del	HBD, HBB +4 more	Deletion	alpha Thalassemia +4 more	GPathogenic
Select item 15060	NC_000011.10:g.5226638_5234052del	LOC106099062, LOC106099063 +3 more	Deletion	Hemoglobin Lepore trait	GPathogenic
Select item 15063	NM_000518.4(HBB):c.-7305_92+16del	HBB, HBD +3 more	Deletion	Hemoglobin Lepore trait	GPathogenic
Select item 15068	NM_000519.3(HBD):c.*199G>A	HBD	Single nucleotide variant	delta Thalassemia	GPathogenic
Select item 878068	NM_000519.4(HBD):c.*102G>A	HBD	Single nucleotide variant (3 prime UTR variant)	HBD-related condition +1 more	GConflicting classifications of pathogenicity
Select item 879524	NM_000519.4(HBD):c.*96G>T	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305002	NM_000519.4(HBD):c.*91G>A	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879525	NM_000519.4(HBD):c.*65T>C	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305003	NM_000519.4(HBD):c.*59C>G	HBD	Single nucleotide variant (3 prime UTR variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15079	NM_000519.4(HBD):c.440A>G (p.His147Arg)	HBD (H147R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) MONREALE	Gother
Select item 2387845	NM_000519.4(HBD):c.437A>T (p.Tyr146Phe)	HBD (Y146F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 15047	NM_000519.3(HBD):c.428C>A (p.Ala143Asp)	HBD (A143D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) FITZROY	Gother
Select item 15062	NM_000519.4(HBD):c.425T>C (p.Leu142Pro)	HBD (L142P)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) PELENDRI	Gother
Select item 2292333	NM_000519.4(HBD):c.424C>G (p.Leu142Val)	HBD (L142V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 15044	NM_000519.3(HBD):c.410G>A (p.Gly137Asp)	HBD (G137D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) BABINGA	Gother
Select item 15086	NM_000519.4(HBD):c.401T>C (p.Val134Ala)	HBD (V134A)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) NINIVE	Gother
Select item 15059	NM_000519.3(HBD):c.376C>G (p.Gln126Glu)	HBD (Q126E)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) ZAGREB	Gother
Select item 15051	NM_000519.3(HBD):c.365A>T (p.Glu122Val)	HBD (E122V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) MANZANARES	Gother
Select item 3049559	NM_000519.4(HBD):c.363G>A (p.Lys121=)	HBD	Single nucleotide variant (synonymous variant)	HBD-related condition	GLikely benign
Select item 15046	NM_000519.3(HBD):c.350G>A (p.Arg117His)	HBD (R117H)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) COBURG	Gother
Select item 15066	NM_000519.4(HBD):c.349C>T (p.Arg117Cys)	HBD (R117C)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) TROODOS +1 more	Gother
Select item 2775429	NM_000519.4(HBD):c.332T>C (p.Leu111Pro)	HBD (L111P)	Single nucleotide variant (missense variant)	Thalassemia	GUncertain significance
Select item 15073	NM_000519.4(HBD):c.316-2A>G	HBD	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1163918	NM_000519.4(HBD):c.316-5C>T	HBD	Single nucleotide variant (intron variant)	HBD-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1175530	NM_000519.4(HBD):c.315+146T>G	HBD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 15084	NM_000519.4(HBD):c.315+6T>A	HBD, LOC106099063	Single nucleotide variant (intron variant)	delta Thalassemia	GPathogenic
Select item 15083	NM_000519.4(HBD):c.315G>T (p.Arg105Ser)	LOC106099063, HBD (R105S)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CAPRI	Gother
Select item 15045	NM_000519.3(HBD):c.298G>A (p.Asp100Asn)	HBD, LOC106099063 (D100N)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CANADA	Gother
Select item 15057	NM_000519.4(HBD):c.295G>A (p.Val99Met)	HBD, LOC106099063 (V99M)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) WRENS	Gother
Select item 708948	NM_000519.4(HBD):c.294C>T (p.His98=)	HBD, LOC106099063	Single nucleotide variant (synonymous variant)	HBD-related condition +1 more	GBenign
Select item 15077	NM_000519.4(HBD):c.280T>G (p.Cys94Gly)	HBD, LOC106099063 (C94G)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) SANT' ANTIOCO	Gother
Select item 15049	NM_000519.3(HBD):c.272A>T (p.Glu91Val)	LOC106099063, HBD (E91V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) HONAI	Gother
Select item 15082	NM_000519.4(HBD):c.265C>G (p.Leu89Val)	HBD, LOC106099063 (L89V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) LUCANIA	Gother
Select item 15074	NM_000519.4(HBD):c.226C>G (p.Leu76Val)	HBD, LOC106099063 (L76V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) GROVETOWN +1 more	GPathogenic; other
Select item 305004	NM_000519.4(HBD):c.225C>T (p.Gly75=)	HBD, LOC106099063	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15050	NM_000519.3(HBD):c.208G>C (p.Gly70Arg)	LOC106099063, HBD (G70R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) INDONESIA	Gother
Select item 15065	NM_000519.4(HBD):c.179del (p.Lys60fs)	LOC106099063, HBD (K60fs)	Deletion (frameshift variant)	Delta-zero-thalassemia, knossos type	GPathogenic
Select item 15081	NM_000519.4(HBD):c.174C>A (p.Asn58Lys)	HBD, LOC106099063 (N58K)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CAMPANIA	Gother
Select item 2459835	NM_000519.4(HBD):c.163G>C (p.Val55Leu)	HBD, LOC106099063 (V55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 15043	NM_000519.3(HBD):c.155C>G (p.Pro52Arg)	HBD, LOC106099063 (P52R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) ADRIA	Gother
Select item 15067	NM_000519.3(HBD):c.143A>T (p.Asp48Val)	HBD, LOC106099063 (D48V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) PARKVILLE	Gother
Select item 15078	NM_000519.4(HBD):c.131A>G (p.Glu44Gly)	HBD, LOC106099063 (E44G)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) AGRINIO	Gother
Select item 15052	NM_000519.3(HBD):c.130G>A (p.Glu44Lys)	HBD, LOC106099063 (E44K)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) MELBOURNE	Gother
Select item 15076	NM_000519.4(HBD):c.113G>A (p.Trp38Ter)	HBD, LOC106099063 (W38*)	Single nucleotide variant (nonsense)	Delta-0-thalassemia	GPathogenic
Select item 15080	NM_000519.4(HBD):c.110C>A (p.Pro37His)	HBD, LOC106099063 (P37H)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) METAPONTO	Gother
Select item 2360148	NM_000519.4(HBD):c.104T>A (p.Val35Asp)	LOC106099063, HBD (V35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 879526	NM_000519.4(HBD):c.97C>T (p.Leu33=)	LOC106099063, HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 1163919	NM_000519.4(HBD):c.93-28G>C	HBD, LOC106099063	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 15071	NM_000519.4(HBD):c.92G>C (p.Arg31Thr)	HBD, LOC106099063 (R31T)	Single nucleotide variant (missense variant)	delta Thalassemia	GPathogenic
Select item 879527	NM_000519.4(HBD):c.83C>A (p.Ala28Asp)	HBD, LOC106099063 (A28D)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	LOC106099063, HBD (A28S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 15075	NM_000519.4(HBD):c.81G>C (p.Glu27Asp)	LOC106099063, HBD (E27D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) PUGLIA	Gother
Select item 15058	NM_000519.3(HBD):c.77G>A (p.Gly26Asp)	HBD, LOC106099063 (G26D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) YOKOSHIMA	Gother
Select item 305005	NM_000519.4(HBD):c.76G>A (p.Gly26Ser)	HBD, LOC106099063 (G26S)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15056	NM_000519.3(HBD):c.74G>A (p.Gly25Asp)	HBD, LOC106099063 (G25D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) VICTORIA	Gother
Select item 15048	NM_000519.3(HBD):c.68C>A (p.Ala23Glu)	HBD (A23E)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) FLATBUSH +1 more	Gother
Select item 15054	NM_000519.3(HBD):c.62T>A (p.Val21Glu)	HBD (V21E)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) ROOSEVELT	Gother
Select item 879891	NM_000519.4(HBD):c.60C>T (p.Asn20=)	HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15042	NM_000519.3(HBD):c.49G>C (p.Gly17Arg)	HBD (G17R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2)-PRIME +1 more	Gother
Select item 15053	NM_000519.3(HBD):c.39T>A (p.Asn13Lys)	HBD (N13K)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) NYU +1 more	Gother
Select item 632058	NM_000519.4(HBD):c.14C>T (p.Thr5Ile)	HBD (T5I)	Single nucleotide variant (missense variant)	delta Thalassemia	GUncertain significance
Select item 15055	NM_000519.3(HBD):c.8A>G (p.His3Arg)	HBD (H3R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) SPHAKIA	Gother
Select item 879892	NM_000519.4(HBD):c.6G>A (p.Val2=)	HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15069	NM_000519.4(HBD):c.5T>C (p.Val2Ala)	HBD (V2A)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) NIIGATA	Gother
Select item 305006	NM_000519.3(HBD):c.-60A>T	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305007	NM_000519.3(HBD):c.-62C>T	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 15087	NM_000519.3(HBD):c.-81A>G	HBD, LOC109951029	Single nucleotide variant	Delta-plus-thalassemia	GPathogenic
Select item 1163920	NM_000519.3(HBD):c.-118C>T	HBD, LOC109951029	Single nucleotide variant	not provided	GPathogenic
Select item 15085	NM_000519.3(HBD):c.-126A>T	HBD, LOC109951029	Single nucleotide variant	delta Thalassemia	GPathogenic
Select item 15072	NM_000519.3(HBD):c.-127T>C	HBD, LOC109951029	Single nucleotide variant	delta Thalassemia	GPathogenic
Select item 305008	NM_000519.3(HBD):c.-180A>G	HBD, LOC109951029	Single nucleotide variant	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 1288272	NC_000011.10:g.5234670C>T	HBD, LOC109951029	Single nucleotide variant	not provided	GBenign
Select item 1236912	NC_000011.10:g.5234682A>G	HBD, LOC109951029	Single nucleotide variant	not provided	GBenign
Select item 3063205	GRCh37/hg19 11p15.4(chr11:5255264-5284702)x1	HBD, HBG1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2685395	GRCh37/hg19 11p15.4(chr11:5187271-5258592)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685394	GRCh37/hg19 11p15.4(chr11:5183175-5269140)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 2573436	NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del	HBD, HBB	Deletion	Hemoglobinopathy	GLikely pathogenic
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1711331	GRCh37/hg19 11p15.4(chr11:5198944-5255663)x1	HBB, HBD +1 more	Copy number loss	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1341261	GRCh37/hg19 11p15.4(chr11:5187270-5268465)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 996224	NC_000011.9:g.(?_5246695)_(5255713_?)del	HBB, HBD	Deletion	Hemoglobinopathy	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815403	GRCh37/hg19 11p15.4(chr11:5187270-5262621)x1	HBD, OR51V1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815402	GRCh37/hg19 11p15.4(chr11:5187269-5268465)x1	HBB, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 815400	GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1	HBD, OR52A1 +7 more	Copy number loss	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 686921	GRCh37/hg19 11p15.4(chr11:5254694-5262112)x1	HBD	Copy number loss	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 563812	GRCh37/hg19 11p15.4(chr11:5175476-5258592)x1	OR51V1, HBD +1 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic

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