"PreventionGenetics, part of Exact Sciences"[submitter] AND "FRMD7"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263088	NM_194277.3(FRMD7):c.1533T>C (p.Ile511=)	FRMD7	Single nucleotide variant (synonymous variant)	Nystagmus 1, congenital, X-linked +2 more	GBenign
Select item 263087	NM_194277.3(FRMD7):c.1403G>A (p.Arg468His)	FRMD7 (R468H +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +2 more	GBenign
Select item 263086	NM_194277.3(FRMD7):c.1101T>C (p.Asn367=)	FRMD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1168097	NM_194277.3(FRMD7):c.987A>G (p.Pro329=)	FRMD7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 263090	NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)	FRMD7 (S281L +1 more)	Single nucleotide variant (missense variant)	Nystagmus 1, congenital, X-linked +2 more	GBenign
Select item 1927739	NM_194277.3(FRMD7):c.644G>A (p.Arg215Gln)	FRMD7 (R200Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1170403	NM_194277.3(FRMD7):c.450C>A (p.Asn150Lys)	FRMD7 (N135K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 263089	NM_194277.3(FRMD7):c.69C>T (p.Ser23=)	FRMD7	Single nucleotide variant (synonymous variant)	Nystagmus 1, congenital, X-linked +2 more	GBenign

ClinVar