Related gene-specific medical variations for Gene (Select 6332) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689927	NM_002976.4(SCN7A):c.253A>T (p.Lys85Ter)	SCN7A (K85*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2689926	NM_002976.4(SCN7A):c.559G>A (p.Val187Ile)	SCN7A (V187I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689925	NM_002976.4(SCN7A):c.2404C>T (p.Gln802Ter)	SCN7A (Q802*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2689924	NM_002976.4(SCN7A):c.560dup (p.Thr188fs)	SCN7A (T188fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 979384	GRCh37/hg19 2q24.3(chr2:167285375-167394817)x1	SCN7A	Copy number loss	not provided	GUncertain significance
Select item 562495	GRCh37/hg19 2q24.3(chr2:167278155-167344777)x1	SCN7A	Copy number loss	not provided	GUncertain significance

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