Related gene-specific medical variations for Gene (Select 109580095) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302990	NM_033179.2(OR51B4):c.840T>A (p.Phe280Leu)	HBB-LCR, OR51B4 (F280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302989	NM_033179.2(OR51B4):c.311T>G (p.Leu104Arg)	HBB-LCR, OR51B4 (L104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302988	NM_033179.2(OR51B4):c.227T>C (p.Met76Thr)	HBB-LCR, OR51B4 (M76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205768	NM_033179.2(OR51B4):c.704T>C (p.Leu235Pro)	HBB-LCR, OR51B4 (L235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205767	NM_033179.2(OR51B4):c.567C>G (p.Ile189Met)	HBB-LCR, OR51B4 (I189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205766	NM_033179.2(OR51B4):c.534T>A (p.His178Gln)	HBB-LCR, OR51B4 (H178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205764	NM_033179.2(OR51B4):c.350A>G (p.Tyr117Cys)	HBB-LCR, OR51B4 (Y117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205763	NM_033179.2(OR51B4):c.332T>G (p.Ile111Ser)	HBB-LCR, OR51B4 (I111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205762	NM_033179.2(OR51B4):c.29T>G (p.Phe10Cys)	HBB-LCR, OR51B4 (F10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205761	NM_033179.2(OR51B4):c.274C>A (p.His92Asn)	HBB-LCR, OR51B4 (H92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205760	NM_033179.2(OR51B4):c.200C>T (p.Thr67Met)	HBB-LCR, OR51B4 (T67M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599535	NM_033179.2(OR51B4):c.569C>T (p.Thr190Met)	HBB-LCR, OR51B4 (T190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592147	NM_033179.2(OR51B4):c.654C>G (p.Ile218Met)	HBB-LCR, OR51B4 (I218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552614	NM_033179.2(OR51B4):c.620A>G (p.Asp207Gly)	HBB-LCR, OR51B4 (D207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535129	NM_033179.2(OR51B4):c.811A>G (p.Ile271Val)	HBB-LCR, OR51B4 (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519807	NM_033179.2(OR51B4):c.53C>T (p.Ser18Leu)	HBB-LCR, OR51B4 (S18L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510479	NM_033179.2(OR51B4):c.213G>C (p.Met71Ile)	HBB-LCR, OR51B4 (M71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481896	NM_033179.2(OR51B4):c.71G>A (p.Arg24Gln)	HBB-LCR, OR51B4 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410081	NM_033179.2(OR51B4):c.421A>G (p.Ile141Val)	HBB-LCR, OR51B4 (I141V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394979	NM_033179.2(OR51B4):c.269T>C (p.Ile90Thr)	HBB-LCR, OR51B4 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362977	NM_033179.2(OR51B4):c.721C>T (p.His241Tyr)	HBB-LCR, OR51B4 (H241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301876	NM_033179.2(OR51B4):c.505C>T (p.Arg169Cys)	HBB-LCR, OR51B4 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293746	NM_033179.2(OR51B4):c.323A>C (p.Glu108Ala)	HBB-LCR, OR51B4 (E108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283358	NM_033179.2(OR51B4):c.221C>T (p.Thr74Ile)	HBB-LCR, OR51B4 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278361	NM_033179.2(OR51B4):c.842C>G (p.Pro281Arg)	HBB-LCR, OR51B4 (P281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250826	NM_033179.2(OR51B4):c.668T>A (p.Met223Lys)	HBB-LCR, OR51B4 (M223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243743	NM_033179.2(OR51B4):c.422T>C (p.Ile141Thr)	HBB-LCR, OR51B4 (I141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235602	NM_033179.2(OR51B4):c.674T>C (p.Ile225Thr)	HBB-LCR, OR51B4 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226573	NM_033179.2(OR51B4):c.194C>T (p.Ala65Val)	HBB-LCR, OR51B4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218428	NM_033179.2(OR51B4):c.346G>A (p.Ala116Thr)	HBB-LCR, OR51B4 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 30