"Ambry Genetics"[submitter] AND "ALKBH1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549418	NM_006020.3(ALKBH1):c.1160C>T (p.Pro387Leu)	ALKBH1 (P387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536045	NM_006020.3(ALKBH1):c.1091A>G (p.Asp364Gly)	ALKBH1 (D364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411214	NM_006020.3(ALKBH1):c.1075G>A (p.Glu359Lys)	ALKBH1 (E359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387005	NM_006020.3(ALKBH1):c.1046C>G (p.Thr349Arg)	ALKBH1 (T349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234570	NM_006020.3(ALKBH1):c.1043C>G (p.Ala348Gly)	ALKBH1 (A348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392619	NM_006020.3(ALKBH1):c.1021A>G (p.Met341Val)	ALKBH1 (M341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253576	NM_006020.3(ALKBH1):c.1012C>T (p.Arg338Cys)	ALKBH1 (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292136	NM_006020.3(ALKBH1):c.948T>G (p.Asp316Glu)	ALKBH1 (D316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259169	NM_006020.3(ALKBH1):c.872G>T (p.Arg291Leu)	ALKBH1 (R291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219488	NM_006020.3(ALKBH1):c.851T>C (p.Leu284Pro)	ALKBH1 (L284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286776	NM_006020.3(ALKBH1):c.847C>T (p.Arg283Cys)	ALKBH1 (R283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300744	NM_006020.3(ALKBH1):c.724C>T (p.Pro242Ser)	ALKBH1 (P242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522850	NM_006020.3(ALKBH1):c.665A>G (p.Tyr222Cys)	ALKBH1 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286759	NM_006020.3(ALKBH1):c.638G>A (p.Arg213Gln)	ALKBH1 (R213Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286786	NM_006020.3(ALKBH1):c.585C>A (p.Asp195Glu)	ALKBH1 (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111621	NM_006020.3(ALKBH1):c.562C>T (p.His188Tyr)	ALKBH1 (H188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111617	NM_006020.3(ALKBH1):c.475C>T (p.Arg159Trp)	ALKBH1 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373948	NM_006020.3(ALKBH1):c.450C>A (p.Phe150Leu)	ALKBH1 (F150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286766	NM_006020.3(ALKBH1):c.445G>A (p.Glu149Lys)	ALKBH1 (E149K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301755	NM_006020.3(ALKBH1):c.445G>C (p.Glu149Gln)	ALKBH1 (E149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256535	NM_006020.3(ALKBH1):c.394G>A (p.Asp132Asn)	ALKBH1 (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304459	NM_006020.3(ALKBH1):c.334T>C (p.Trp112Arg)	ALKBH1 (W112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395352	NM_006020.3(ALKBH1):c.272A>G (p.Tyr91Cys)	ALKBH1 (Y91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111599	NM_006020.3(ALKBH1):c.256A>G (p.Ser86Gly)	ALKBH1 (S86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312871	NM_006020.3(ALKBH1):c.228T>A (p.Asn76Lys)	ALKBH1 (N76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622286	NM_006020.3(ALKBH1):c.205G>T (p.Val69Leu)	ALKBH1 (V69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286797	NM_006020.3(ALKBH1):c.31G>A (p.Val11Met)	ALKBH1, LOC130056190 (V11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510918	NM_006020.3(ALKBH1):c.22G>T (p.Val8Leu)	ALKBH1, LOC130056190 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28