"Ambry Genetics"[submitter] AND "LOC126863212"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031340	NM_003611.3(OFD1):c.3G>A (p.Met1Ile)	LOC126863212, OFD1 (M1I)	Single nucleotide variant (missense variant +2 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 2475764	NM_003611.3(OFD1):c.8C>A (p.Ala3Glu)	LOC126863212, OFD1 (A3E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2273579	NM_003611.3(OFD1):c.42G>T (p.Leu14Phe)	LOC126863212, OFD1 (L14F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2307169	NM_003611.3(OFD1):c.45T>A (p.Ser15Arg)	LOC126863212, OFD1 (S15R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 94373	NM_003611.3(OFD1):c.54A>G (p.Glu18=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 985442	NM_003611.3(OFD1):c.56T>C (p.Leu19Pro)	LOC126863212, OFD1 (L19P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar