OFD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1257452	NM_003611.3(OFD1):c.112-172del	OFD1	Deletion (intron variant)	not provided	GBenign
Select item 1243041	NM_003611.3(OFD1):c.112-63C>T	OFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079907	NM_003611.3(OFD1):c.112-18_112-13del	OFD1	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2499680	NM_003611.3(OFD1):c.112-11T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GPathogenic
Select item 1354994	NM_003611.3(OFD1):c.112-4C>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 559928	NM_003611.3(OFD1):c.112-2del	OFD1	Deletion (splice acceptor variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 41066	NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	OFD1 (R41*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 10 +4 more	GPathogenic
Select item 2287070	NM_003611.3(OFD1):c.124A>G (p.Asn42Asp)	OFD1 (N42D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2660029	NM_003611.3(OFD1):c.126C>T (p.Asn42=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2928309	NM_003611.3(OFD1):c.135T>G (p.Ile45Met)	OFD1 (I45M)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2494167	NM_003611.3(OFD1):c.140A>G (p.Glu47Gly)	OFD1 (E47G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2930846	NM_003611.3(OFD1):c.142T>C (p.Leu48=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2942200	NM_003611.3(OFD1):c.145A>T (p.Met49Leu)	OFD1 (M49L)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2937328	NM_003611.3(OFD1):c.148C>T (p.His50Tyr)	OFD1 (H50Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 217687	NM_003611.3(OFD1):c.149A>G (p.His50Arg)	OFD1 (H50R)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10 +3 more	GConflicting classifications of pathogenicity
Select item 1803455	NM_003611.3(OFD1):c.151C>T (p.Pro51Ser)	OFD1 (P51S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1589875	NM_003611.3(OFD1):c.156A>T (p.Val52=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1810698	NM_003611.3(OFD1):c.162_166del (p.Ser54fs)	OFD1 (S54fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 975455	NM_003611.3(OFD1):c.172C>G (p.Gln58Glu)	OFD1 (Q58E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 2934459	NM_003611.3(OFD1):c.178C>A (p.Arg60=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2195328	NM_003611.3(OFD1):c.178C>T (p.Arg60Trp)	OFD1 (R60W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 404262	NM_003611.3(OFD1):c.195A>C (p.Glu65Asp)	OFD1 (E65D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2952218	NM_003611.3(OFD1):c.198del (p.Ser67fs)	OFD1 (S67fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 436103	NM_003611.3(OFD1):c.198G>A (p.Gly66=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +2 more	GLikely benign
Select item 2932459	NM_003611.3(OFD1):c.216C>T (p.Gly72=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
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 559929	NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro)	OFD1	Insertion (inframe_indel +1 more)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 1412399	NM_003611.3(OFD1):c.223A>G (p.Asn75Asp)	OFD1 (N75D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 592034	NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)	OFD1 (S76F)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1907264	NM_003611.3(OFD1):c.229T>C (p.Leu77=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 547065	NM_003611.3(OFD1):c.230T>C (p.Leu77Ser)	OFD1 (L77S)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 159469	NM_003611.3(OFD1):c.231A>C (p.Leu77Phe)	OFD1 (L77F)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I	GUncertain significance
Select item 1333492	NM_003611.3(OFD1):c.237_243delinsGCCTA (p.Asp80fs)	OFD1 (D80fs)	Indel (frameshift variant +1 more)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 1568046	NM_003611.3(OFD1):c.255T>C (p.Cys85=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 857937	NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)	OFD1 (G86D)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 41103	NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	OFD1 (Y87C)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2014389	NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del)	OFD1	Deletion (inframe_deletion +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1899867	NM_003611.3(OFD1):c.264A>G (p.Glu88=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2944190	NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)	OFD1 (S90A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1914528	NM_003611.3(OFD1):c.270A>C (p.Ser90=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2014392	NM_003611.3(OFD1):c.275C>T (p.Ser92Phe)	OFD1 (S92F)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 863788	NM_003611.3(OFD1):c.276T>A (p.Ser92=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 288538	NM_003611.3(OFD1):c.276T>C (p.Ser92=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	OFD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 217685	NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	OFD1 (V93F)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 10	GPathogenic
Select item 412873	NM_003611.3(OFD1):c.282C>T (p.Phe94=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 1605820	NM_003611.3(OFD1):c.288A>G (p.Pro96=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 41108	NM_003611.3(OFD1):c.294_312del (p.Ser98fs)	OFD1 (S98fs)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome I	GPathogenic
Select item 2943242	NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)	OFD1 (G99D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2942247	NM_003611.3(OFD1):c.308_312del (p.Glu103fs)	OFD1 (E103fs)	Microsatellite (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2949663	NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)	OFD1 (K102E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 11538	NM_003611.3(OFD1):c.312+1del	OFD1	Deletion (splice donor variant)	Orofaciodigital syndrome I	GPathogenic
Select item 582157	NM_003611.3(OFD1):c.312+1G>T	OFD1	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 1904272	NM_003611.3(OFD1):c.312+12C>G	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1279520	NM_003611.3(OFD1):c.312+206G>T	OFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220348	NM_003611.3(OFD1):c.313-175A>G	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2940321	NM_003611.3(OFD1):c.313-16C>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 424320	NM_003611.3(OFD1):c.313-3A>G	OFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319149	NM_003611.3(OFD1):c.313G>A (p.Val105Ile)	OFD1 (V105I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2256998	NM_003611.3(OFD1):c.318T>G (p.Phe106Leu)	OFD1 (F106L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 571289	NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	OFD1 (M108I)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +6 more	GConflicting classifications of pathogenicity
Select item 1899563	NM_003611.3(OFD1):c.336A>G (p.Leu112=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 447889	NM_003611.3(OFD1):c.338A>G (p.Gln113Arg)	OFD1 (Q113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 559931	NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)	OFD1 (I115N)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I	GPathogenic
Select item 1568806	NM_003611.3(OFD1):c.345T>G (p.Ile115Met)	OFD1 (I115M)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1732433	NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)	OFD1 (N118T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 219659	NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)	OFD1 (P119T)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 2930162	NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)	OFD1 (T120A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 695273	NM_003611.3(OFD1):c.359C>T (p.Thr120Ile)	OFD1 (T120I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GBenign
Select item 2197863	NM_003611.3(OFD1):c.360T>G (p.Thr120=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 520422	NM_003611.3(OFD1):c.363del (p.Ser122fs)	OFD1 (S122fs)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome I	GPathogenic
Select item 1653884	NM_003611.3(OFD1):c.363C>A (p.Ser121=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
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 1393650	NM_003611.3(OFD1):c.373A>C (p.Lys125Gln)	OFD1 (K125Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2140617	NM_003611.3(OFD1):c.381+10C>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2929108	NM_003611.3(OFD1):c.381+20G>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1291732	NM_003611.3(OFD1):c.381+27A>G	OFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2949268	NM_003611.3(OFD1):c.382-10_382-6del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1599930	NM_003611.3(OFD1):c.382G>C (p.Val128Leu)	OFD1 (V128L)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GBenign
Select item 975456	NM_003611.3(OFD1):c.382G>A (p.Val128Ile)	OFD1 (V128I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1622454	NM_003611.3(OFD1):c.387A>G (p.Ser129=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1384207	NM_003611.3(OFD1):c.388G>C (p.Gly130Arg)	OFD1 (G130R)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949267	NM_003611.3(OFD1):c.389G>T (p.Gly130Val)	OFD1 (G130V)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1736333	NM_003611.3(OFD1):c.393del (p.Asp132fs)	OFD1 (D132fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1122051	NM_003611.3(OFD1):c.393T>G (p.Ser131=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2929425	NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)	OFD1 (D132E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GBenign
Select item 1736675	NM_003611.3(OFD1):c.397A>G (p.Lys133Glu)	OFD1 (K133E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 41117	NM_003611.3(OFD1):c.400_403del (p.Glu134fs)	OFD1 (E134fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 10 +5 more	GPathogenic
Select item 3028566	NM_003611.3(OFD1):c.408A>G (p.Gln136=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2663852	NM_003611.3(OFD1):c.412+2_412+5del	OFD1	Deletion (splice donor variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 559932	NM_003611.3(OFD1):c.412+1G>T	OFD1	Single nucleotide variant (splice donor variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 1948573	NM_003611.3(OFD1):c.412+9C>T	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1109310	NM_003611.3(OFD1):c.412+10G>T	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 703062	NM_003611.3(OFD1):c.412+10G>A	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1246937	NM_003611.3(OFD1):c.412+282dup	OFD1	Duplication (intron variant)	not provided	GBenign
Select item 1215779	NM_003611.3(OFD1):c.412+264C>A	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187372	NM_003611.3(OFD1):c.412+282del	OFD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1220140	NM_003611.3(OFD1):c.412+281A>C	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319148	NM_003611.3(OFD1):c.412+965C>T	OFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1174234	NM_003611.3(OFD1):c.413-263G>A	OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616822	NM_003611.3(OFD1):c.413-11_413-10del	OFD1	Microsatellite (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign

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