"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OFD1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1486282	NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)	LOC126863212, OFD1 (Q25R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 41066	NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	OFD1 (R41*)	Single nucleotide variant (nonsense +1 more)	Orofaciodigital syndrome I +4 more	GPathogenic
Select item 793761	NM_003611.3(OFD1):c.216C>A (p.Gly72=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +4 more	GLikely benign
Select item 412873	NM_003611.3(OFD1):c.282C>T (p.Phe94=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +4 more	GLikely benign
Select item 571289	NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	OFD1 (M108I)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
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 1167595	NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)	OFD1 (S165L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +5 more	GConflicting classifications of pathogenicity
Select item 1164101	NM_003611.3(OFD1):c.517+13_517+14delinsGC	OFD1	Indel (intron variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 590230	NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)	OFD1 (R212W +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 699265	NM_003611.3(OFD1):c.688A>G (p.Ile230Val)	OFD1 (I230V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 41143	NM_003611.3(OFD1):c.710dup (p.Tyr238fs)	OFD1 (Y98fs +1 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I +4 more	GPathogenic
Select item 159473	NM_003611.3(OFD1):c.714T>C (p.Tyr238=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +6 more	GBenign/Likely benign
Select item 593063	NM_003611.3(OFD1):c.730A>G (p.Met244Val)	OFD1 (M244V +1 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GUncertain significance
Select item 1601293	NM_003611.3(OFD1):c.795G>A (p.Lys265=)	OFD1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +5 more	GBenign/Likely benign
Select item 532267	NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)	OFD1 (G298R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
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 1387002	NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)	OFD1 (S183G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1379374	NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)	OFD1 (Y202C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 41065	NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)	OFD1 (Q358fs +2 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I +4 more	GPathogenic
Select item 1554549	NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)	OFD1 (N284S +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 188156	NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)	OFD1 (K432E +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 994698	NM_003611.3(OFD1):c.1347A>G (p.Ala449=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +5 more	GLikely benign
Select item 1179099	NM_003611.3(OFD1):c.1411+1G>A	OFD1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 23 +3 more	GPathogenic
Select item 532266	NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)	OFD1 (E490K +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GUncertain significance
Select item 1397896	NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)	OFD1 (I493T +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +4 more	GUncertain significance
Select item 1417509	NM_003611.3(OFD1):c.1490A>C (p.His497Pro)	OFD1 (H497P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +5 more	GUncertain significance
Select item 1038468	NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)	OFD1 (A490G +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +4 more	GUncertain significance
Select item 259096	NM_003611.3(OFD1):c.1654+14T>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 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)	Orofaciodigital syndrome I +5 more	GBenign/Likely benign
Select item 41088	NM_003611.3(OFD1):c.1923G>A (p.Glu641=)	OFD1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 593017	NM_003611.3(OFD1):c.2022C>A (p.His674Gln)	OFD1 (H674Q +2 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GUncertain significance
Select item 1246944	NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)	OFD1 (T566I +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 696854	NM_003611.3(OFD1):c.2235C>T (p.Ser745=)	OFD1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 1167480	NM_003611.3(OFD1):c.2260+12G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +4 more	GBenign/Likely benign
Select item 588180	NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)	OFD1 (C766F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +4 more	GUncertain significance
Select item 568118	NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)	OFD1 (F828V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1168272	NM_003611.3(OFD1):c.2488+14_2488+19del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +4 more	GBenign/Likely benign
Select item 211787	NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	OFD1 (S862A +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +6 more	GConflicting classifications of pathogenicity
Select item 159472	NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)	OFD1 (K888T +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +7 more	GBenign/Likely benign
Select item 1531154	NM_003611.3(OFD1):c.2928+18A>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 259098	NM_003611.3(OFD1):c.2929-18C>T	OFD1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 1653522	NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)	OFD1 (E858K +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1164288	NM_003611.3(OFD1):c.2996+16AC[2]	OFD1	Microsatellite (intron variant)	Familial aplasia of the vermis +4 more	GBenign/Likely benign
Select item 1045493	NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)	OFD1 (E1007D +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance

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Items: 44