Related gene-specific medical variations for Gene (Select 3045) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283570	NM_000519.4(HBD):c.103G>A (p.Val35Ile)	HBD, LOC106099063 (V35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459835	NM_000519.4(HBD):c.163G>C (p.Val55Leu)	HBD, LOC106099063 (V55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360148	NM_000519.4(HBD):c.104T>A (p.Val35Asp)	HBD, LOC106099063 (V35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1163919	NM_000519.4(HBD):c.93-28G>C	HBD, LOC106099063	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 879527	NM_000519.4(HBD):c.83C>A (p.Ala28Asp)	HBD, LOC106099063 (A28D)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 879526	NM_000519.4(HBD):c.97C>T (p.Leu33=)	LOC106099063, HBD	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 708948	NM_000519.4(HBD):c.294C>T (p.His98=)	HBD, LOC106099063	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686921	GRCh37/hg19 11p15.4(chr11:5254694-5262112)x1	HBD	Copy number loss	not provided	GPathogenic
Select item 305005	NM_000519.4(HBD):c.76G>A (p.Gly26Ser)	HBD, LOC106099063 (G26S)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1	GUncertain significance
Select item 305004	NM_000519.4(HBD):c.225C>T (p.Gly75=)	HBD, LOC106099063	Single nucleotide variant (synonymous variant)	Fetal hemoglobin quantitative trait locus 1 +1 more	GUncertain significance
Select item 15084	NM_000519.4(HBD):c.315+6T>A	HBD, LOC106099063	Single nucleotide variant (intron variant)	delta Thalassemia	GPathogenic
Select item 15083	NM_000519.4(HBD):c.315G>T (p.Arg105Ser)	LOC106099063, HBD (R105S)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CAPRI	Gother
Select item 15082	NM_000519.4(HBD):c.265C>G (p.Leu89Val)	HBD, LOC106099063 (L89V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) LUCANIA	Gother
Select item 15081	NM_000519.4(HBD):c.174C>A (p.Asn58Lys)	HBD, LOC106099063 (N58K)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CAMPANIA	Gother
Select item 15080	NM_000519.4(HBD):c.110C>A (p.Pro37His)	HBD, LOC106099063 (P37H)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) METAPONTO	Gother
Select item 15078	NM_000519.4(HBD):c.131A>G (p.Glu44Gly)	HBD, LOC106099063 (E44G)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) AGRINIO	Gother
Select item 15077	NM_000519.4(HBD):c.280T>G (p.Cys94Gly)	HBD, LOC106099063 (C94G)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) SANT' ANTIOCO	Gother
Select item 15076	NM_000519.4(HBD):c.113G>A (p.Trp38Ter)	HBD, LOC106099063 (W38*)	Single nucleotide variant (nonsense)	Delta-0-thalassemia	GPathogenic
Select item 15075	NM_000519.4(HBD):c.81G>C (p.Glu27Asp)	LOC106099063, HBD (E27D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) PUGLIA	Gother
Select item 15074	NM_000519.4(HBD):c.226C>G (p.Leu76Val)	HBD, LOC106099063 (L76V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) GROVETOWN +1 more	GPathogenic; other
Select item 15071	NM_000519.4(HBD):c.92G>C (p.Arg31Thr)	HBD, LOC106099063 (R31T)	Single nucleotide variant (missense variant)	delta Thalassemia	GPathogenic
Select item 15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	HBD, LOC106099063 (A28S)	Single nucleotide variant (missense variant)	Fetal hemoglobin quantitative trait locus 1 +2 more	GConflicting classifications of pathogenicity
Select item 15067	NM_000519.3(HBD):c.143A>T (p.Asp48Val)	HBD, LOC106099063 (D48V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) PARKVILLE	Gother
Select item 15065	NM_000519.4(HBD):c.179del (p.Lys60fs)	HBD, LOC106099063 (K60fs)	Deletion (frameshift variant)	Delta-0-thalassemia	GPathogenic
Select item 15064	Hb Parchman	HBB, HBD +3 more	Deletion	HEMOGLOBIN PARCHMAN	Gother
Select item 15058	NM_000519.3(HBD):c.77G>A (p.Gly26Asp)	HBD, LOC106099063 (G26D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) YOKOSHIMA	Gother
Select item 15057	NM_000519.4(HBD):c.295G>A (p.Val99Met)	HBD, LOC106099063 (V99M)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) WRENS	Gother
Select item 15056	NM_000519.3(HBD):c.74G>A (p.Gly25Asp)	HBD, LOC106099063 (G25D)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) VICTORIA	Gother
Select item 15052	NM_000519.3(HBD):c.130G>A (p.Glu44Lys)	HBD, LOC106099063 (E44K)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) MELBOURNE	Gother
Select item 15050	NM_000519.3(HBD):c.208G>C (p.Gly70Arg)	LOC106099063, HBD (G70R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) INDONESIA	Gother
Select item 15049	NM_000519.3(HBD):c.272A>T (p.Glu91Val)	LOC106099063, HBD (E91V)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) HONAI	Gother
Select item 15045	NM_000519.3(HBD):c.298G>A (p.Asp100Asn)	HBD, LOC106099063 (D100N)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) CANADA	Gother
Select item 15043	NM_000519.3(HBD):c.155C>G (p.Pro52Arg)	HBD, LOC106099063 (P52R)	Single nucleotide variant (missense variant)	HEMOGLOBIN A(2) ADRIA	Gother

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Links from Gene

Items: 33