"PreventionGenetics, part of Exact Sciences"[submitter] AND "SFXN4"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052198	NM_213649.2(SFXN4):c.*3G>A	SFXN4	Single nucleotide variant (3 prime UTR variant +1 more)	SFXN4-related disorder	GBenign
Select item 380100	NM_213649.2(SFXN4):c.678G>A (p.Ala226=)	SFXN4	Single nucleotide variant (synonymous variant +1 more)	SFXN4-related disorder +2 more	GBenign
Select item 739444	NM_213649.2(SFXN4):c.617-4A>G	SFXN4	Single nucleotide variant (intron variant)	SFXN4-related disorder +1 more	GBenign/Likely benign
Select item 3051086	NM_213649.2(SFXN4):c.617-9C>T	SFXN4	Single nucleotide variant (intron variant)	SFXN4-related disorder	GLikely benign
Select item 3054918	NM_213649.2(SFXN4):c.-5G>A	LOC130004825, SFXN4	Single nucleotide variant (5 prime UTR variant +1 more)	SFXN4-related disorder	GLikely benign

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