"Baylor Genetics"[submitter] AND "OFD1"[gene] - ClinVar - NCBI

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Items: 9

	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 2582465	NM_003611.3(OFD1):c.368T>C (p.Leu123Pro)	OFD1 (L123P)	Single nucleotide variant (missense variant +1 more)	Simpson-Golabi-Behmel syndrome type 2	GUncertain significance
Select item 41117	NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	OFD1 (E134fs)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome I +5 more	GPathogenic
Select item 689774	NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)	OFD1	Deletion (inframe_deletion)	Simpson-Golabi-Behmel syndrome type 2 +2 more	GUncertain significance
Select item 1031341	NM_003611.3(OFD1):c.935+4A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +5 more	GUncertain significance
Select item 488753	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1 (Q331* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 2582566	NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)	OFD1 (P335L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029728	NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg)	OFD1 (K507R +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic