Related gene-specific medical variations for Gene (Select 3048) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1330947	NM_000184.3(HBG2):c.358G>C (p.Gly120Arg)	HBG2 (G120R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 423096	NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3])	HBG2, LOC106099065	Microsatellite (inframe_insertion)	not provided	GLikely pathogenic
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 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 14989	NM_000184.2(HBG2):c.277C>T (p.His93Tyr)	HBG2, LOC106099065 (H93Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 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 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

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Links from Gene

Items: 48