"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "OFD1"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1492845	NM_001011658.4(TRAPPC2):c.325-1G>C	OFD1, TRAPPC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1662760	NM_001011658.4(TRAPPC2):c.325-12C>T	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007415	NM_001011658.4(TRAPPC2):c.324+16T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988154	NM_001011658.4(TRAPPC2):c.324+15A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993776	NM_001011658.4(TRAPPC2):c.324+1G>A	OFD1, TRAPPC2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2737081	NM_001011658.4(TRAPPC2):c.320dup (p.Phe109fs)	OFD1, TRAPPC2 (F109fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2022886	NM_001011658.4(TRAPPC2):c.318T>A (p.Tyr106Ter)	OFD1, TRAPPC2 (Y106* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1355570	NM_001011658.4(TRAPPC2):c.276A>T (p.Glu92Asp)	OFD1, TRAPPC2 (E126D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844924	NM_001011658.4(TRAPPC2):c.267A>C (p.Ile89=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943130	NM_001011658.4(TRAPPC2):c.265A>G (p.Ile89Val)	OFD1, TRAPPC2 (I123V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1513816	NM_001011658.4(TRAPPC2):c.253A>T (p.Met85Leu)	OFD1, TRAPPC2 (M85L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804351	NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs)	OFD1, TRAPPC2 (M115fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1332782	NM_001011658.4(TRAPPC2):c.239-10_239-7del	OFD1, TRAPPC2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1625101	NM_001011658.4(TRAPPC2):c.239-20T>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2034288	NM_001011658.4(TRAPPC2):c.223T>A (p.Phe75Ile)	OFD1, TRAPPC2 (F75I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737082	NM_001011658.4(TRAPPC2):c.218C>T (p.Ser73Leu)	OFD1, TRAPPC2 (S107L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2183506	NM_001011658.4(TRAPPC2):c.204C>T (p.Asn68=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 11508	NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)	OFD1, TRAPPC2 (V64fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1968214	NM_001011658.4(TRAPPC2):c.144C>T (p.Leu48=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2191074	NM_001011658.4(TRAPPC2):c.138C>T (p.Leu46=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723476	NM_001011658.4(TRAPPC2):c.114C>T (p.Asn38=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1640603	NM_001011658.4(TRAPPC2):c.111G>A (p.Leu37=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1544956	NM_001011658.4(TRAPPC2):c.108T>C (p.His36=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576155	NM_001011658.4(TRAPPC2):c.94-6A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784205	NM_001011658.4(TRAPPC2):c.93+14T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 912341	NM_001011658.4(TRAPPC2):c.93+7A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia tarda +1 more	GBenign/Likely benign
Select item 11512	NM_001011658.4(TRAPPC2):c.93+5G>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2876007	NM_001011658.4(TRAPPC2):c.93+4C>T	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997193	NM_001011658.4(TRAPPC2):c.51T>C (p.Val17=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748862	NM_001011658.4(TRAPPC2):c.47_48del (p.Pro16fs)	OFD1, TRAPPC2 (P50fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1917586	NM_001011658.4(TRAPPC2):c.48A>C (p.Pro16=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950349	NM_001011658.4(TRAPPC2):c.38A>G (p.His13Arg)	OFD1, TRAPPC2 (H13R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913562	NM_001011658.4(TRAPPC2):c.17A>G (p.Tyr6Cys)	OFD1, TRAPPC2 (Y6C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842620	NM_001011658.4(TRAPPC2):c.-19-2A>T	OFD1, TRAPPC2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 639881	NC_000023.10:g.(?_13753080)_(13754816_?)dup	LOC126863212, OFD1	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 463447	NC_000023.11:g.(?_13735052)_(13769128_?)del	LOC126863212, LOC130067975 +2 more	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 463446	NC_000023.11:g.(?_13735052)_(13744539_?)del	LOC126863212, OFD1	Deletion	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1031340	NM_003611.3(OFD1):c.3G>A (p.Met1Ile)	LOC126863212, OFD1 (M1I)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 10 +3 more	GUncertain significance
Select item 2937537	NM_003611.3(OFD1):c.4A>G (p.Met2Val)	LOC126863212, OFD1 (M2V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2935770	NM_003611.3(OFD1):c.7G>T (p.Ala3Ser)	LOC126863212, OFD1 (A3S)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2092854	NM_003611.3(OFD1):c.12+8C>T	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1158105	NM_003611.3(OFD1):c.12+10C>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 1532880	NM_003611.3(OFD1):c.12+16C>T	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GBenign
Select item 2946640	NM_003611.3(OFD1):c.12+18T>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1663560	NM_003611.3(OFD1):c.13-7C>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2927343	NM_003611.3(OFD1):c.16A>G (p.Asn6Asp)	LOC126863212, OFD1 (N6D)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2099476	NM_003611.3(OFD1):c.17A>G (p.Asn6Ser)	LOC126863212, OFD1 (N6S)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 463455	NM_003611.3(OFD1):c.26C>T (p.Thr9Ile)	LOC126863212, OFD1 (T9I)	Single nucleotide variant (missense variant +1 more)	Simpson-Golabi-Behmel syndrome type 2 +4 more	GUncertain significance
Select item 2104704	NM_003611.3(OFD1):c.28G>T (p.Val10Leu)	LOC126863212, OFD1 (V10L)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 846182	NM_003611.3(OFD1):c.29T>C (p.Val10Ala)	LOC126863212, OFD1 (V10A)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2939374	NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr)	LOC126863212, OFD1 (D12Y)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2028172	NM_003611.3(OFD1):c.42G>A (p.Leu14=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2120438	NM_003611.3(OFD1):c.43A>G (p.Ser15Gly)	LOC126863212, OFD1 (S15G)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1401792	NM_003611.3(OFD1):c.53A>C (p.Glu18Ala)	LOC126863212, OFD1 (E18A)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 94373	NM_003611.3(OFD1):c.54A>G (p.Glu18=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1504241	NM_003611.3(OFD1):c.59G>A (p.Arg20His)	LOC126863212, OFD1 (R20H)	Single nucleotide variant (missense variant +1 more)	OFD1-related disorder +2 more	GUncertain significance
Select item 2150913	NM_003611.3(OFD1):c.61A>G (p.Lys21Glu)	LOC126863212, OFD1 (K21E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 412877	NM_003611.3(OFD1):c.69A>G (p.Leu23=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
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 404263	NM_003611.3(OFD1):c.89G>A (p.Arg30Gln)	LOC126863212, OFD1 (R30Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1376372	NM_003611.3(OFD1):c.94A>G (p.Ile32Val)	LOC126863212, OFD1 (I32V)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2132669	NM_003611.3(OFD1):c.105A>G (p.Thr35=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1374119	NM_003611.3(OFD1):c.109A>G (p.Lys37Glu)	LOC126863212, OFD1 (K37E)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1068539	NM_003611.3(OFD1):c.111+2T>G	LOC126863212, OFD1	Single nucleotide variant (splice donor variant)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2933554	NM_003611.3(OFD1):c.111+6G>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 2079907	NM_003611.3(OFD1):c.112-18_112-13del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 1354994	NM_003611.3(OFD1):c.112-4C>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +4 more	GLikely benign
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 2928309	NM_003611.3(OFD1):c.135T>G (p.Ile45Met)	OFD1 (I45M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	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)	Orofaciodigital syndrome I +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)	not provided +3 more	GConflicting classifications of pathogenicity
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 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)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2932459	NM_003611.3(OFD1):c.216C>T (p.Gly72=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +4 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 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)	Familial aplasia of the vermis +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 1568046	NM_003611.3(OFD1):c.255T>C (p.Cys85=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +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)	not provided +2 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)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 2944190	NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)	OFD1 (S90A)	Single nucleotide variant (5 prime UTR 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)	Familial aplasia of the vermis +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)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
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)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2943242	NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)	OFD1 (G99D)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2942247	NM_003611.3(OFD1):c.308_312del (p.Glu103fs)	OFD1 (E103fs)	Microsatellite (frameshift variant +1 more)	Orofaciodigital syndrome I +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 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

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