HBG1[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 3255362	Single allele	A-GAMMA3'E, BGLT3 +9 more	Deletion	Beta-thalassemia HBB/LCRB	GPathogenic
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 3060285	NM_000559.3(HBG1):c.*6del	HBG1	Deletion (3 prime UTR variant)	HBG1-related disorder	GBenign
Select item 1330580	NM_000559.3(HBG1):c.*6C>T	HBG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1330681	NM_000559.3(HBG1):c.*5A>C	HBG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1330404	NM_000559.3(HBG1):c.*4C>T	HBG1	Single nucleotide variant (3 prime UTR variant)	Hereditary persistence of fetal hemoglobin +1 more	GBenign
Select item 3059280	NM_000559.3(HBG1):c.*2dup	HBG1	Duplication (3 prime UTR variant)	HBG1-related disorder	GBenign
Select item 1330585	NM_000559.3(HBG1):c.*3T>C	HBG1	Single nucleotide variant (3 prime UTR variant)	Hereditary persistence of fetal hemoglobin +1 more	GBenign
Select item 2530772	NM_000559.3(HBG1):c.425T>C (p.Leu142Pro)	HBG1 (L142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 478899	NM_000559.3(HBG1):c.410C>G (p.Ala137Gly)	HBG1 (A137G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 478845	NM_000559.3(HBG1):c.409G>T (p.Ala137Ser)	HBG1 (A137S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 15032	NM_000559.2(HBG1):c.403G>A (p.Val135Met)	HBG1 (V135M)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (JIANGSU)	Gother
Select item 15006	NM_000559.2(HBG1):c.385G>A (p.Ala129Thr)	HBG1 (A129T)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (BASKENT)	Gother
Select item 1330523	NM_000559.3(HBG1):c.377A>C (p.Glu126Ala)	HBG1 (E126A)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GLikely benign
Select item 3104403	NM_000559.3(HBG1):c.367T>C (p.Phe123Leu)	HBG1 (F123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15023	NM_000559.3(HBG1):c.364G>A (p.Glu122Lys)	HBG1 (E122K)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GLikely benign
Select item 2496256	NM_000559.3(HBG1):c.293A>T (p.His98Leu)	HBG1, LOC106099064 (H98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 15012	NM_000559.2(HBG1):c.293A>G (p.His98Arg)	HBG1, LOC106099064 (H98R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (DICKINSON)	Gother
Select item 15028	NM_000559.2(HBG1):c.241G>A (p.Asp81Asn)	LOC106099064, HBG1 (D81N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (YAMAGUCHI)	Gother
Select item 15025	NM_000559.2(HBG1):c.241G>T (p.Asp81Tyr)	HBG1, LOC106099064 (D81Y)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (VICTORIA JUBILEE)	Gother
Select item 15011	NM_000559.2(HBG1):c.238G>A (p.Asp80Asn)	HBG1, LOC106099064 (D80N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (DAMMAM)	Gother
Select item 446752	NM_000559.2(HBG1):c.[227C>T;409G>T]	HBG1, LOC106099064 (T76I +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (PORTO TORRES)	Gother
Select item 446751	NM_000559.2(HBG1):c.[227C>T;410C>G]	HBG1, LOC106099064 (T76I +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CHARLOTTE)	Gother
Select item 15005	NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)	HBG1, LOC106099064 (T76I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 15027	NM_000559.2(HBG1):c.220G>C (p.Asp74His)	HBG1, LOC106099064 (D74H)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (XIN-SU)	Gother
Select item 15013	NM_000559.2(HBG1):c.220G>A (p.Asp74Asn)	HBG1, LOC106099064 (D74N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (FOREST PARK)	Gother
Select item 1330785	NM_000559.3(HBG1):c.217G>A (p.Gly73Arg)	HBG1, LOC106099064 (G73R)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GLikely benign
Select item 15015	NM_000559.3(HBG1):c.217G>C (p.Gly73Arg)	HBG1, LOC106099064 (G73R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (IWATA)	Gother
Select item 15017	NM_000559.2(HBG1):c.184A>G (p.Lys62Glu)	HBG1, LOC106099064 (K62E)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (JAMAICA)	Gother
Select item 15007	NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)	HBG1, LOC106099064 (A54D)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (BEECH ISLAND)	Gother
Select item 15014	NM_000559.2(HBG1):c.130G>A (p.Asp44Asn)	HBG1, LOC106099064 (D44N)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (FUKUYAMA)	Gother
Select item 15037	NM_000559.2(HBG1):c.122G>A (p.Arg41Lys)	HBG1, LOC106099064 (R41K)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GLikely benign
Select item 15008	NM_000559.2(HBG1):c.119A>G (p.Gln40Arg)	HBG1, LOC106099064 (Q40R)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GLikely benign
Select item 15010	NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)	HBG1, LOC106099064 (W38G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (COBB)	Gother
Select item 15020	NM_000559.2(HBG1):c.110C>G (p.Pro37Arg)	HBG1, LOC106099064 (P37R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (PENDERGRASS)	Gother
Select item 1330868	NM_000559.3(HBG1):c.76G>A (p.Gly26Arg)	HBG1, LOC106099064 (G26R)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GLikely benign
Select item 15026	NM_000559.3(HBG1):c.76G>C (p.Gly26Arg)	HBG1, LOC106099064 (G26R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (XINJIANG)	Gother
Select item 15019	NM_000559.2(HBG1):c.68A>G (p.Asp23Gly)	HBG1, LOC106099064 (D23G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (KUALA LUMPUR)	Gother
Select item 15009	NM_000559.2(HBG1):c.38C>G (p.Thr13Arg)	LOC106099064, HBG1 (T13R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (CALLUNA)	Gother
Select item 15016	NM_000559.3(HBG1):c.20A>G (p.Glu7Gly)	HBG1, LOC106099064 (E7G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (KOTOBUKI) +1 more	Gother
Select item 15021	NM_000559.3(HBG1):c.19G>C (p.Glu7Gln)	HBG1, LOC106099064 (E7Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (PORDENONE)	Gother
Select item 15024	NM_000559.2(HBG1):c.16G>A (p.Glu6Lys)	HBG1, LOC106099064 (E6K)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GLikely benign
Select item 1679501	NM_000559.3(HBG1):c.14C>G (p.Thr5Arg)	HBG1, LOC106099064 (T5R)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	GUncertain significance
Select item 15039	NM_000559.3(HBG1):c.9T>G (p.His3Gln)	HBG1, LOC106099064 (H3Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (MACEDONIA-I)	Gother
Select item 1048099	NM_000559.3(HBG1):c.-29G>A	HBG1, LOC106099064	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 15035	NC_000011.10:g.5249971G>A	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15030	NC_000011.10:g.5249974C>T	HBG1, LOC106099064	Single nucleotide variant	Greek HPFH +2 more	GPathogenic
Select item 15040	NC_000011.10:g.5250015G>A	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15034	NC_000011.10:g.5250052G>C	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15033	NC_000011.10:g.5250053G>A	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15031	NC_000011.10:g.5250055A>G	HBG1, LOC106099064	Single nucleotide variant	British HPFH +1 more	GPathogenic
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 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 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
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 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 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 15038	HBG1, 4-BP DEL, -222 TO -225, PROMOTER	HBG1	Single nucleotide variant	Fetal hemoglobin, a-gamma type, reduction in	GPathogenic
Select item 15029	Hb Kenya	HBG1	Deletion	HEMOGLOBIN KENYA	Gother

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Items: 77