"FUT8-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402887	NM_001371533.1(FUT8):c.165A>G (p.Gln55=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 3057892	NM_001371533.1(FUT8):c.204-4A>G	FUT8	Single nucleotide variant (intron variant)	FUT8-related disorder	GLikely benign
Select item 1600118	NM_001371533.1(FUT8):c.287A>G (p.Gln96Arg)	FUT8 (Q96R)	Single nucleotide variant (missense variant +2 more)	FUT8-related disorder +1 more	GBenign/Likely benign
Select item 3033957	NM_001371533.1(FUT8):c.417C>T (p.Asn139=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	FUT8-related disorder	GLikely benign
Select item 3035460	NM_001371533.1(FUT8):c.457C>G (p.Leu153Val)	FUT8 (L153V)	Single nucleotide variant (missense variant +2 more)	FUT8-related disorder	GBenign
Select item 402888	NM_001371533.1(FUT8):c.570G>A (p.Leu190=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder +2 more	GBenign
Select item 3059592	NM_001371533.1(FUT8):c.633G>A (p.Val211=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign
Select item 3051919	NM_001371533.1(FUT8):c.642C>T (p.Ile214=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign
Select item 3054999	NM_001371533.1(FUT8):c.720A>C (p.Thr240=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign
Select item 2631207	NM_001371533.1(FUT8):c.786_789del (p.Ser263fs)	FUT8 (S100fs +2 more)	Deletion (frameshift variant +1 more)	FUT8-related disorder	GLikely pathogenic
Select item 1285286	NM_001371533.1(FUT8):c.800C>A (p.Thr267Lys)	FUT8 (T104K +2 more)	Single nucleotide variant (missense variant +1 more)	FUT8-related disorder +2 more	GBenign
Select item 3051670	NM_001371533.1(FUT8):c.822T>G (p.Thr274=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign
Select item 1542366	NM_001371533.1(FUT8):c.936C>T (p.Leu312=)	FUT8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3057339	NM_001371533.1(FUT8):c.957G>T (p.Val319=)	FUT8	Single nucleotide variant (synonymous variant)	FUT8-related disorder	GLikely benign
Select item 3055050	NM_001371533.1(FUT8):c.1038A>C (p.Ile346=)	FUT8	Single nucleotide variant (synonymous variant)	FUT8-related disorder	GLikely benign
Select item 3053899	NM_001371533.1(FUT8):c.1506G>A (p.Gln502=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign
Select item 2888926	NM_001371533.1(FUT8):c.1649C>T (p.Thr550Met)	FUT8 (T550M +2 more)	Single nucleotide variant (missense variant +1 more)	FUT8-related disorder +1 more	GLikely benign
Select item 3048856	NM_001371533.1(FUT8):c.1656A>G (p.Leu552=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related disorder	GLikely benign