ClinVar for MedGen (Select 394127) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028924	NM_004252.5(NHERF1):c.107G>A (p.Gly36Asp)	NHERF1, SLC9A3R1-AS1 (G36D)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2	GUncertain significance
Select item 2699465	NM_004252.5(NHERF1):c.809G>A (p.Arg270His)	NHERF1 (R270H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653202	NM_004252.5(NHERF1):c.85C>A (p.His29Asn)	NHERF1, SLC9A3R1-AS1 (H29N)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GLikely benign
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 1564788	NM_004252.5(NHERF1):c.888+13T>C	NHERF1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GBenign/Likely benign
Select item 1494635	NM_004252.5(NHERF1):c.913A>G (p.Lys305Glu)	NHERF1 (K305E)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 2 +1 more	GUncertain significance
Select item 1439727	NM_004252.5(NHERF1):c.940A>G (p.Thr314Ala)	NHERF1 (T314A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001301	NM_004252.5(NHERF1):c.425A>G (p.Lys142Arg)	NHERF1, SLC9A3R1-AS1 (K142R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 959800	NM_004252.5(NHERF1):c.469A>C (p.Met157Leu)	NHERF1 (M157L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 561111	NM_004252.5(NHERF1):c.657C>G (p.Ile219Met)	NHERF1 (I219M)	Single nucleotide variant (missense variant)	NHERF1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 5272	NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)	NHERF1 (E225K)	Single nucleotide variant (missense variant)	NHERF1-related condition +2 more	GBenign/Likely benign
Select item 5271	NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1 (R153Q)	Single nucleotide variant (missense variant)	NHERF1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 5270	NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)	NHERF1, SLC9A3R1-AS1 (L110V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity