Related gene-specific medical variations for Gene (Select 10690) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280233	NM_006581.4(FUT9):c.479G>A (p.Arg160His)	FUT9, UFL1-AS1 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280231	NM_006581.4(FUT9):c.464C>A (p.Thr155Asn)	FUT9, UFL1-AS1 (T155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280230	NM_006581.4(FUT9):c.52A>G (p.Ile18Val)	FUT9, UFL1-AS1 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280229	NM_006581.4(FUT9):c.916G>A (p.Asp306Asn)	FUT9, UFL1-AS1 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097541	NM_006581.4(FUT9):c.593C>T (p.Pro198Leu)	FUT9, UFL1-AS1 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097540	NM_006581.4(FUT9):c.131C>A (p.Ala44Asp)	FUT9, UFL1-AS1 (A44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487603	NM_006581.4(FUT9):c.437G>C (p.Ser146Thr)	FUT9, UFL1-AS1 (S146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471318	NM_006581.4(FUT9):c.341G>A (p.Ser114Asn)	FUT9, UFL1-AS1 (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312424	NM_006581.4(FUT9):c.983G>A (p.Arg328Gln)	FUT9, UFL1-AS1 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251484	NM_006581.4(FUT9):c.102C>G (p.Asn34Lys)	FUT9, UFL1-AS1 (N34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225814	NM_006581.4(FUT9):c.284C>T (p.Thr95Met)	FUT9, UFL1-AS1 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563205	GRCh37/hg19 6q16.1(chr6:96400642-96651526)x3	FUT9	Copy number gain	not provided	GUncertain significance
Select item 151618	GRCh38/hg38 6q16.1(chr6:96044235-96075275)x3	FUT9	Copy number gain	See cases	GLikely benign
Select item 151608	GRCh38/hg38 6q16.1(chr6:96121255-96148537)x3	FUT9	Copy number gain	See cases	GLikely benign