ClinVar for Gene (Select 3048) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369592	NM_000184.3(HBG2):c.422C>A (p.Ala141Asp)	HBG2 (A141D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283573	NM_000184.3(HBG2):c.107A>G (p.Tyr36Cys)	HBG2, LOC106099065 (Y36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283572	NM_000184.3(HBG2):c.412G>A (p.Val138Met)	HBG2 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255366	Single allele	A-GAMMA3'E, BGLT3 +15 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3255365	Single allele	A-GAMMA3'E, BGLT3 +7 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
Select item 3252956	NM_000184.3(HBG2):c.74G>A (p.Gly25Glu)	HBG2, LOC106099065 (G25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075670	NM_000184.3(HBG2):c.86T>A (p.Leu29Gln)	LOC106099065, HBG2 (L29Q)	Single nucleotide variant (missense variant)	Cyanosis, transient neonatal	GLikely pathogenic
Select item 3063205	GRCh37/hg19 11p15.4(chr11:5255264-5284702)x1	HBD, HBG1 +1 more	Copy number loss	not specified	GUncertain significance
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	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2428585	NM_000184.3(HBG2):c.135C>G (p.Ser45Arg)	HBG2, LOC106099065 (S45R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2301684	NM_000184.3(HBG2):c.104T>C (p.Val35Ala)	HBG2, LOC106099065 (V35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229352	NM_000184.3(HBG2):c.134G>A (p.Ser45Asn)	HBG2, LOC106099065 (S45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219057	NM_000184.3(HBG2):c.358G>A (p.Gly120Ser)	HBG2 (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1685226	NM_000184.3(HBG2):c.62T>C (p.Val21Ala)	HBG2, LOC106099065 (V21A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1679500	NM_000184.3(HBG2):c.398A>C (p.Lys133Thr)	HBG2 (K133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679463	NM_000184.3(HBG2):c.397A>C (p.Lys133Gln)	HBG2 (K133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1330947	NM_000184.3(HBG2):c.358G>C (p.Gly120Arg)	HBG2 (G120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
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	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 800493	NM_000184.3(HBG2):c.85C>A (p.Leu29Met)	HBG2, LOC106099065 (L29M)	Single nucleotide variant (missense variant)	Cyanosis, transient neonatal	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +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	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 423096	NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3])	HBG2, LOC106099065	Microsatellite (inframe_insertion)	not provided	GLikely pathogenic
Select item 395433	GRCh37/hg19 11p15.4(chr11:5269595-5275588)x3	HBG1, HBG2	Copy number gain	See cases	GBenign/Likely benign
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 29754	NC_000011.10:g.5255348A>C	HBG2	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 29753	NM_000184.3(HBG2):c.202G>A (p.Val68Met)	HBG2, LOC106099065 (V68M)	Single nucleotide variant (missense variant)	Cyanosis, transient neonatal	GPathogenic
Select item 29752	NM_000184.3(HBG2):c.191A>T (p.His64Leu)	HBG2, LOC106099065 (H64L)	Single nucleotide variant (missense variant)	Cyanosis, transient neonatal	GPathogenic
Select item 15004	NM_000184.3(HBG2):c.60T>A (p.Asn20Lys)	HBG2, LOC106099065 (N20K)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (OULED RABAH)	Gother
Select item 15003	NM_000184.3(HBG2):c.54G>C (p.Lys18Asn)	HBG2, LOC106099065 (K18N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CLAMART)	Gother
Select item 15002	NM_000184.2(HBG2):c.355T>C (p.Phe119Leu)	HBG2 (F119L)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CALABRIA)	Gother
Select item 15001	NC_000011.10:g.5254895G>T	HBG2, LOC106099065	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 14999	NM_000184.2(HBG2):c.121A>G (p.Arg41Gly)	HBG2, LOC106099065 (R41G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (VELETA)	Gother
Select item 14997	NM_000184.2(HBG2):c.178A>G (p.Lys60Glu)	HBG2, LOC106099065 (K60E)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (EMIRATES)	Gother
Select item 14996	NM_000184.3(HBG2):c.125T>C (p.Phe42Ser)	HBG2, LOC106099065 (F42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14995	NM_000184.3(HBG2):c.315G>C (p.Lys105Asn)	HBG2, LOC106099065 (K105N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MACEDONIA II)	Gother
Select item 14994	NM_000184.3(HBG2):c.227T>C (p.Ile76Thr)	HBG2, LOC106099065 (I76T)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (LESVOS) +1 more	Gother
Select item 14993	NM_000184.3(HBG2):c.178A>C (p.Lys60Gln)	HBG2, LOC106099065 (K60Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (SACROMONTE)	Gother
Select item 14992	NM_000184.3(HBG2):c.77G>A (p.Gly26Glu)	HBG2, LOC106099065 (G26E)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (COSENZA)	Gother
Select item 14991	NM_000184.3(HBG2):c.46T>C (p.Trp16Arg)	HBG2, LOC106099065 (W16R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CATALONIA)	Gother
Select item 14990	NC_000011.10:g.5254895G>A	HBG2, LOC106099065	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 14989	NM_000184.2(HBG2):c.277C>T (p.His93Tyr)	HBG2, LOC106099065 (H93Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14988	NM_000184.2(HBG2):c.439C>T (p.His147Tyr)	HBG2 (H147Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (ONODA)	Gother
Select item 14987	NM_000184.2(HBG2):c.199A>C (p.Lys67Gln)	LOC106099065, HBG2 (K67Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14986	NM_000184.2(HBG2):c.122G>A (p.Arg41Lys)	LOC106099065, HBG2 (R41K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14985	NM_000184.2(HBG2):c.68A>T (p.Asp23Val)	HBG2, LOC106099065 (D23V)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (GRANADA)	Gother
Select item 14984	NC_000011.10:g.5254939G>A	HBG2, LOC106099065	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14983	NC_000011.10:g.5254956A>G	HBG2, LOC106099065	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 14982	NC_000011.10:g.5254983G>C	HBG2, LOC106099065	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 14981	NM_000184.3(HBG2):c.190C>T (p.His64Tyr)	HBG2, LOC106099065 (H64Y)	Single nucleotide variant (missense variant)	Cyanosis, transient neonatal	GPathogenic
Select item 14980	NM_000184.2(HBG2):c.68A>G (p.Asp23Gly)	HBG2, LOC106099065 (D23G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (URUMQI)	Gother
Select item 14979	NM_000184.2(HBG2):c.103G>A (p.Val35Ile)	LOC106099065, HBG2 (V35I)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (TOKYO)	Gother
Select item 14978	NM_000184.2(HBG2):c.200A>G (p.Lys67Arg)	HBG2, LOC106099065 (K67R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (SHANGHAI)	Gother
Select item 14977	NM_000184.2(HBG2):c.377A>C (p.Glu126Ala)	HBG2 (E126A)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (PORT ROYAL)	Gother
Select item 14976	NM_000184.2(HBG2):c.391T>G (p.Trp131Gly)	HBG2 (W131G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (POOLE)	Gother
Select item 14975	NM_000184.2(HBG2):c.79G>A (p.Glu27Lys)	HBG2, LOC106099065 (E27K)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (OAKLAND)	Gother
Select item 14974	NM_000184.3(HBG2):c.217G>C (p.Gly73Arg)	HBG2, LOC106099065 (G73R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MINOO)	Gother
Select item 14973	NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)	HBG2, LOC106099065 (G17R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 14972	NM_000184.2(HBG2):c.17A>G (p.Glu6Gly)	HBG2, LOC106099065 (E6G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MEINOHAMA)	Gother
Select item 14971	NM_000184.2(HBG2):c.241G>A (p.Asp81Asn)	LOC106099065, HBG2 (D81N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MARIETTA)	Gother
Select item 14970	NM_000184.2(HBG2):c.353A>G (p.His118Arg)	HBG2 (H118R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MALTA)	Gother
Select item 14969	NM_000184.2(HBG2):c.4G>T (p.Gly2Cys)	HBG2, LOC106099065 (G2C)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MALAYSIA)	Gother
Select item 14968	NM_000184.3(HBG2):c.133A>C (p.Ser45Arg)	HBG2, LOC106099065 (S45R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (LODZ)	Gother
Select item 14967	NM_000184.2(HBG2):c.304G>A (p.Glu102Lys)	HBG2, LOC106099065 (E102K)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (LA GRANGE)	Gother
Select item 14966	NM_000184.2(HBG2):c.167T>G (p.Met56Arg)	HBG2, LOC106099065 (M56R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (KINGSTON)	Gother
Select item 14965	NM_000184.2(HBG2):c.233A>G (p.His78Arg)	HBG2, LOC106099065 (H78R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (KENNESTONE)	Gother
Select item 14964	NM_000184.2(HBG2):c.38C>G (p.Thr13Arg)	HBG2, LOC106099065 (T13R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (HEATHER)	Gother
Select item 14963	NM_000184.3(HBG2):c.64G>C (p.Glu22Gln)	HBG2, LOC106099065 (E22Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (FUCHU)	Gother
Select item 14962	NM_000184.2(HBG2):c.283G>A (p.Asp95Asn)	LOC106099065, HBG2 (D95N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (COLUMBUS-GA)	Gother
Select item 14961	NM_000184.3(HBG2):c.198G>C (p.Lys66Asn)	HBG2, LOC106099065 (K66N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CLARKE)	Gother
Select item 14960	NM_000184.2(HBG2):c.364G>A (p.Glu122Lys)	HBG2 (E122K)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CARLTON)	Gother
Select item 14959	NM_000184.2(HBG2):c.361A>C (p.Lys121Gln)	HBG2 (K121Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CALTECH)	Gother
Select item 14958	NM_000184.2(HBG2):c.22G>A (p.Asp8Asn)	HBG2, LOC106099065 (D8N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (AUCKLAND)	Gother
Select item 14957	NM_000184.3(HBG2):c.25A>C (p.Lys9Gln)	LOC106099065, HBG2 (K9Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (ALBAICIN)	Gother
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Items: 89