"PreventionGenetics, part of Exact Sciences"[submitter] AND "NHERF1"[g - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629960	NM_004252.5(NHERF1):c.26C>A (p.Ala9Glu)	NHERF1, SLC9A3R1-AS1 (A9E)	Single nucleotide variant (non-coding transcript variant +1 more)	NHERF1-related disorder	GUncertain significance
Select item 720539	NM_004252.5(NHERF1):c.132C>T (p.Pro44=)	NHERF1, SLC9A3R1-AS1	Single nucleotide variant (synonymous variant)	NHERF1-related disorder +1 more	GBenign
Select item 708596	NM_004252.5(NHERF1):c.267G>A (p.Leu89=)	NHERF1, SLC9A3R1-AS1	Single nucleotide variant (synonymous variant)	NHERF1-related disorder +1 more	GBenign
Select item 2631133	NM_004252.5(NHERF1):c.319C>G (p.Arg107Gly)	NHERF1, SLC9A3R1-AS1 (R107G)	Single nucleotide variant (non-coding transcript variant +1 more)	NHERF1-related disorder	GUncertain significance
Select item 3041699	NM_004252.5(NHERF1):c.441+7G>A	NHERF1, SLC9A3R1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	NHERF1-related disorder	GBenign
Select item 5271	NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	NHERF1 (R153Q)	Single nucleotide variant (missense variant)	NHERF1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 715086	NM_004252.5(NHERF1):c.518C>T (p.Ser173Phe)	NHERF1 (S173F)	Single nucleotide variant (missense variant)	NHERF1-related disorder +1 more	GLikely benign
Select item 2884076	NM_004252.5(NHERF1):c.539G>A (p.Arg180Gln)	NHERF1 (R180Q)	Single nucleotide variant (missense variant)	NHERF1-related disorder +1 more	GUncertain significance
Select item 561111	NM_004252.5(NHERF1):c.657C>G (p.Ile219Met)	NHERF1 (I219M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3056467	NM_004252.5(NHERF1):c.672C>T (p.Asp224=)	NHERF1	Single nucleotide variant (synonymous variant)	NHERF1-related disorder	GLikely benign
Select item 5272	NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)	NHERF1 (E225K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3059221	NM_004252.5(NHERF1):c.855G>A (p.Leu285=)	NHERF1	Single nucleotide variant (synonymous variant)	NHERF1-related disorder	GLikely benign
Select item 1092051	NM_004252.5(NHERF1):c.902A>T (p.Asp301Val)	NHERF1 (D301V)	Single nucleotide variant (missense variant)	NHERF1-related disorder +1 more	GBenign/Likely benign