"PreventionGenetics, part of Exact Sciences"[submitter] AND "FBXO38"[g - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 473962	NM_205836.3(FBXO38):c.87T>C (p.Tyr29=)	FBXO38	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 541029	NM_205836.3(FBXO38):c.456A>G (p.Val152=)	FBXO38	Single nucleotide variant (synonymous variant)	FBXO38-related disorder +1 more	GLikely benign
Select item 1165905	NM_205836.3(FBXO38):c.504T>C (p.Phe168=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GBenign/Likely benign
Select item 3050190	NM_205836.3(FBXO38):c.731-6_731-5del	FBXO38	Deletion (intron variant)	FBXO38-related disorder	GLikely benign
Select item 541003	NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)	FBXO38 (L311I)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +4 more	GLikely benign
Select item 2162038	NM_205836.3(FBXO38):c.1359C>T (p.Pro453=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GLikely benign
Select item 3061580	NM_205836.3(FBXO38):c.1408-9T>C	FBXO38	Single nucleotide variant (intron variant)	FBXO38-related disorder	GLikely benign
Select item 1165617	NM_205836.3(FBXO38):c.1527C>T (p.His509=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GBenign/Likely benign
Select item 650945	NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile)	FBXO38 (T562I)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +1 more	GUncertain significance
Select item 1979602	NM_205836.3(FBXO38):c.1739-4dup	FBXO38	Duplication (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 473952	NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly)	FBXO38 (S716G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 473954	NM_205836.3(FBXO38):c.2341C>T (p.Pro781Ser)	FBXO38 (P781S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1793124	NM_205836.3(FBXO38):c.2561G>A (p.Ser854Asn)	FBXO38 (S854N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1793198	NM_205836.3(FBXO38):c.2569G>A (p.Val857Met)	FBXO38 (V857M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1126227	NM_205836.3(FBXO38):c.2679C>T (p.His893=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GLikely benign
Select item 3035718	NM_205836.3(FBXO38):c.2696G>A (p.Arg899Gln)	FBXO38 (R654Q +2 more)	Single nucleotide variant (missense variant)	FBXO38-related disorder	GUncertain significance
Select item 1096293	NM_205836.3(FBXO38):c.2736C>T (p.Ile912=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GLikely benign
Select item 541028	NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=)	FBXO38	Single nucleotide variant (synonymous variant)	FBXO38-related disorder +1 more	GLikely benign
Select item 706485	NM_205836.3(FBXO38):c.3357C>T (p.Phe1119=)	FBXO38	Single nucleotide variant (synonymous variant)	Distal hereditary motor neuropathy type 2 +1 more	GBenign/Likely benign