C2676782[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1653202	NM_004252.5(NHERF1):c.85C>A (p.His29Asn)	SLC9A3R1-AS1, NHERF1 (H29N)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1642817	NM_004252.5(NHERF1):c.252C>T (p.Asn84=)	NHERF1, SLC9A3R1-AS1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GLikely benign
Select item 1001301	NM_004252.5(NHERF1):c.425A>G (p.Lys142Arg)	NHERF1, SLC9A3R1-AS1 (K142R)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GUncertain significance
Select item 5271	NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1 (R153Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 959800	NM_004252.5(NHERF1):c.469A>C (p.Met157Leu)	NHERF1 (M157L)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +2 more	GUncertain significance
Select item 1564788	NM_004252.5(NHERF1):c.888+13T>C	NHERF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1494635	NM_004252.5(NHERF1):c.913A>G (p.Lys305Glu)	NHERF1 (K305E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439727	NM_004252.5(NHERF1):c.940A>G (p.Thr314Ala)	NHERF1 (T314A)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GUncertain significance