"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159473	NM_003611.3(OFD1):c.714T>C (p.Tyr238=)	OFD1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +6 more	GBenign/Likely benign
Select item 94370	NM_003611.3(OFD1):c.1129+16A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +6 more	GBenign
Select item 159464	NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)	OFD1 (K422E +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1206030	NM_003611.3(OFD1):c.1412-8C>T	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205966	NM_003611.3(OFD1):c.1412-5C>T	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159466	NM_003611.3(OFD1):c.1654+8A>G	OFD1	Single nucleotide variant (intron variant)	OFD1-related disorder +4 more	GBenign/Likely benign
Select item 412874	NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)	OFD1 (V565A +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign
Select item 41088	NM_003611.3(OFD1):c.1923G>A (p.Glu641=)	OFD1	Single nucleotide variant (synonymous variant)	Joubert syndrome 10 +7 more	GBenign/Likely benign
Select item 159467	NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)	OFD1 (A678G +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1285067	NM_003611.3(OFD1):c.2136C>T (p.Asp712=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 1120275	NM_003611.3(OFD1):c.2139C>T (p.Val713=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 159471	NM_003611.3(OFD1):c.2387+11C>T	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +2 more	GBenign
Select item 259098	NM_003611.3(OFD1):c.2929-18C>T	OFD1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 23 +6 more	GBenign/Likely benign