"Baylor Genetics"[submitter] AND "FREM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728872	NM_001379081.2(FREM1):c.4442+3G>A	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218843	NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)	FREM1 (S1471N)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +5 more	GConflicting classifications of pathogenicity
Select item 1030228	NM_001379081.2(FREM1):c.3694+6G>C	FREM1	Single nucleotide variant (intron variant)	Trigonocephaly 2	GUncertain significance
Select item 1033108	NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr)	FREM1 (D1119Y)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2	GUncertain significance
Select item 1030227	NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile)	FREM1 (T681I)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +2 more	GUncertain significance
Select item 1030226	NM_001379081.2(FREM1):c.1786A>G (p.Ile596Val)	FREM1 (I596V)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome	GUncertain significance
Select item 366176	NM_001379081.2(FREM1):c.100G>T (p.Val34Leu)	FREM1 (V34L)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +1 more	GUncertain significance
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

ClinVar