Related gene-specific medical variations for Gene (Select 3047) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1048099	NM_000559.3(HBG1):c.-29G>A	HBG1, LOC106099064	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 478899	NM_000559.3(HBG1):c.410C>G (p.Ala137Gly)	HBG1 (A137G)	Single nucleotide variant (missense variant)	Hereditary persistence of fetal hemoglobin	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 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 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 15038	HBG1, 4-BP DEL, -222 TO -225, PROMOTER	HBG1	Single nucleotide variant	Fetal hemoglobin, a-gamma type, reduction in	GPathogenic
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 15029	Hb Kenya	HBG1	Deletion	HEMOGLOBIN KENYA	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 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 15026	NM_000559.3(HBG1):c.76G>C (p.Gly26Arg)	HBG1, LOC106099064 (G26R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (XINJIANG)	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 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 15021	NM_000559.3(HBG1):c.19G>C (p.Glu7Gln)	HBG1, LOC106099064 (E7Q)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (PORDENONE)	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 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 15017	NM_000559.2(HBG1):c.184A>G (p.Lys62Glu)	HBG1, LOC106099064 (K62E)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (JAMAICA)	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 15015	NM_000559.3(HBG1):c.217G>C (p.Gly73Arg)	HBG1, LOC106099064 (G73R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (IWATA)	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 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 15012	NM_000559.2(HBG1):c.293A>G (p.His98Arg)	HBG1, LOC106099064 (H98R)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (DICKINSON)	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 15010	NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)	HBG1, LOC106099064 (W38G)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (COBB)	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 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 15007	NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)	LOC106099064, HBG1 (A54D)	Single nucleotide variant (missense variant)	HEMOGLOBIN F (BEECH ISLAND)	Gother
Select item 15005	NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)	HBG1, LOC106099064 (T76I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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Items: 34