"GeneDx"[submitter] AND "ALKBH8"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1712708	NM_138775.3(ALKBH8):c.1966A>C (p.Asn656His)	ALKBH8 (N606H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313759	NM_138775.3(ALKBH8):c.1960C>T (p.Gln654Ter)	ALKBH8 (Q604* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2458792	NM_138775.3(ALKBH8):c.1859G>T (p.Ser620Ile)	ALKBH8 (S620I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2458791	NM_138775.3(ALKBH8):c.1693G>A (p.Glu565Lys)	ALKBH8 (E565K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3342968	NM_138775.3(ALKBH8):c.1678A>G (p.Ile560Val)	ALKBH8 (I510V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368459	NM_138775.3(ALKBH8):c.1675C>T (p.Arg559Cys)	ALKBH8 (R509C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 636271	NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	ALKBH8 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3368460	NM_138775.3(ALKBH8):c.1253G>A (p.Gly418Glu)	ALKBH8 (G418E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574515	NM_138775.3(ALKBH8):c.899A>G (p.Asp300Gly)	ALKBH8 (D300G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703941	NM_138775.3(ALKBH8):c.830G>A (p.Arg277Gln)	ALKBH8 (R277Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2502787	NM_138775.3(ALKBH8):c.604G>A (p.Asp202Asn)	ALKBH8 (D202N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690482	NM_138775.3(ALKBH8):c.367+1G>T	ALKBH8	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 2203783	NM_138775.3(ALKBH8):c.259T>C (p.Tyr87His)	ALKBH8 (Y87H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2574520	NM_138775.3(ALKBH8):c.170G>A (p.Ser57Asn)	ALKBH8 (S57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2459456	NM_138775.3(ALKBH8):c.132C>G (p.Ser44Arg)	ALKBH8 (S44R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 254019	GRCh37/hg19 11q22.3(chr11:106959465-107537265)x1	ELMOD1, CWF19L2 +1 more	Copy number loss	See cases	GUncertain significance