"GeneDx"[submitter] AND "NHERF1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265446	NC_000017.11:g.74748373T>C	LOC130061617, NHERF1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1247073	NC_000017.11:g.74748444A>C	LOC130061617, NHERF1 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1316461	NC_000017.11:g.74748473G>A	LOC130061617, NHERF1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1277585	NM_004252.5(NHERF1):c.-188G>C	LOC130061617, MIR3615 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2572959	NM_004252.5(NHERF1):c.-116C>T	LOC130061617, NHERF1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1315840	NM_004252.5(NHERF1):c.-75G>A	LOC130061617, NHERF1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1316123	NM_004252.5(NHERF1):c.-43C>A	LOC130061617, NHERF1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 449530	NM_004252.5(NHERF1):c.203A>C (p.Glu68Ala)	NHERF1, SLC9A3R1-AS1 (E68A)	Single nucleotide variant (missense variant)	not provided	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
Select item 1168477	NM_004252.5(NHERF1):c.441+14A>G	NHERF1, SLC9A3R1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1166985	NM_004252.5(NHERF1):c.501C>T (p.Asn167=)	NHERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731308	NM_004252.5(NHERF1):c.627G>A (p.Gly209=)	NHERF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1296834	NM_004252.5(NHERF1):c.758-322A>G	NHERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275984	NM_004252.5(NHERF1):c.758-192C>T	NHERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278616	NM_004252.5(NHERF1):c.758-174A>T	NHERF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286163	NM_004252.5(NHERF1):c.799-177A>G	NHERF1	Single nucleotide variant (intron variant)	not provided	GBenign