"OMIM"[submitter] AND "LOC106099064"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Hereditary persistence of fetal hemoglobin +1 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 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 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 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	NM_000559.2(HBG1):c.-167C>T	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15030	NM_000559.2(HBG1):c.-170G>A	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin +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	NM_000559.2(HBG1):c.-53-195C>G	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15033	NM_000559.2(HBG1):c.-53-196C>T	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin	GPathogenic
Select item 15031	NM_000559.2(HBG1):c.-53-198T>C	HBG1, LOC106099064	Single nucleotide variant	Hereditary persistence of fetal hemoglobin +1 more	GPathogenic

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Items: 32