"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NSDHL"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1311669	NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)	NSDHL (R88Q)	Single nucleotide variant (missense variant)	CK syndrome +2 more	GUncertain significance
Select item 1336685	NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)	NSDHL (Q89E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1548268	NM_015922.3(NSDHL):c.268-15dup	NSDHL	Duplication (intron variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 707162	NM_015922.3(NSDHL):c.306C>T (p.Phe102=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 698117	NM_015922.3(NSDHL):c.351T>C (p.Phe117=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 1361740	NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)	NSDHL (N187S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1611000	NM_015922.3(NSDHL):c.612C>T (p.Phe204=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 703493	NM_015922.3(NSDHL):c.678C>T (p.Phe226=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 718187	NM_015922.3(NSDHL):c.834C>T (p.Phe278=)	NSDHL	Single nucleotide variant (synonymous variant)	CK syndrome +2 more	GBenign/Likely benign
Select item 706009	NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)	NSDHL (W298L)	Single nucleotide variant (missense variant)	Child syndrome +2 more	GLikely benign
Select item 1297520	NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)	NSDHL (P316R)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 772278	NM_015922.3(NSDHL):c.987C>T (p.Val329=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +2 more	GBenign/Likely benign
Select item 1468939	NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)	NSDHL (K344R)	Single nucleotide variant (missense variant)	Child syndrome +2 more	GUncertain significance
Select item 373975	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	NSDHL (L352V)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 159448	NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)	NSDHL	Single nucleotide variant (synonymous variant)	Child syndrome +4 more	GBenign/Likely benign