Related gene-specific medical variations for Gene (Select 8481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370303	NM_003611.3(OFD1):c.825_826AG[3] (p.Ile277fs)	OFD1 (I137fs +1 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3361550	NM_003611.3(OFD1):c.580G>A (p.Glu194Lys)	OFD1 (E194K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360493	NM_003611.3(OFD1):c.2207C>T (p.Ser736Phe)	OFD1 (S596F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359289	NM_003611.3(OFD1):c.217G>C (p.Ala73Pro)	OFD1 (A73P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252326	NM_001011658.4(TRAPPC2):c.127C>T (p.His43Tyr)	OFD1, TRAPPC2 (H43Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064749	NM_003611.3(OFD1):c.2997-3T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GUncertain significance
Select item 3007415	NM_001011658.4(TRAPPC2):c.324+16T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2988154	NM_001011658.4(TRAPPC2):c.324+15A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2946640	NM_003611.3(OFD1):c.12+18T>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2939374	NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr)	LOC126863212, OFD1 (D12Y)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 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)	Orofaciodigital syndrome I +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)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2933554	NM_003611.3(OFD1):c.111+6G>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2927343	NM_003611.3(OFD1):c.16A>G (p.Asn6Asp)	LOC126863212, OFD1 (N6D)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2876007	NM_001011658.4(TRAPPC2):c.93+4C>T	OFD1, TRAPPC2	Single nucleotide variant (intron 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 2842620	NM_001011658.4(TRAPPC2):c.-19-2A>T	OFD1, TRAPPC2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2784205	NM_001011658.4(TRAPPC2):c.93+14T>C	OFD1, TRAPPC2	Single nucleotide variant (intron 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 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 2737081	NM_001011658.4(TRAPPC2):c.320dup (p.Phe109fs)	OFD1, TRAPPC2 (F109fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2690660	NM_003611.3(OFD1):c.2del (p.Met1fs)	LOC126863212, OFD1 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2689638	NM_003611.3(OFD1):c.773A>G (p.Glu258Gly)	OFD1 (E118G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664637	NM_003611.3(OFD1):c.97C>G (p.Leu33Val)	LOC126863212, OFD1 (L33V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2631346	NM_003611.3(OFD1):c.38T>G (p.Val13Gly)	LOC126863212, OFD1 (V13G)	Single nucleotide variant (missense variant +1 more)	OFD1-related disorder	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 2577913	NM_001011658.4(TRAPPC2):c.225del (p.Phe75fs)	OFD1, TRAPPC2 (F109fs +1 more)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia tarda, X-linked	GPathogenic
Select item 2575107	NM_001011658.4(TRAPPC2):c.91A>T (p.Lys31Ter)	OFD1, TRAPPC2 (K31* +1 more)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia tarda, X-linked	GPathogenic
Select item 2504117	NC_000023.11:g.13738845G>T	OFD1	Single nucleotide variant	Orofaciodigital syndrome I	GLikely pathogenic
Select item 2475764	NM_003611.3(OFD1):c.8C>A (p.Ala3Glu)	LOC126863212, OFD1 (A3E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2434498	NM_003611.3(OFD1):c.2321C>T (p.Ser774Leu)	OFD1 (S634L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434495	NM_003611.3(OFD1):c.806A>G (p.Glu269Gly)	OFD1 (E129G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434494	NM_003611.3(OFD1):c.1492GAG[1] (p.Glu499del)	OFD1 (E359del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2434493	NM_003611.3(OFD1):c.1830T>G (p.Asn610Lys)	OFD1 (N470K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428760	NM_001011658.4(TRAPPC2):c.308A>G (p.Tyr103Cys)	OFD1, TRAPPC2 (Y103C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia tarda, X-linked	GBenign
Select item 2307169	NM_003611.3(OFD1):c.45T>A (p.Ser15Arg)	LOC126863212, OFD1 (S15R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2300474	NM_001011658.4(TRAPPC2):c.104G>A (p.Arg35His)	OFD1, TRAPPC2 (R35H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273579	NM_003611.3(OFD1):c.42G>T (p.Leu14Phe)	LOC126863212, OFD1 (L14F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	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 2183506	NM_001011658.4(TRAPPC2):c.204C>T (p.Asn68=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2150913	NM_003611.3(OFD1):c.61A>G (p.Lys21Glu)	LOC126863212, OFD1 (K21E)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +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 2120438	NM_003611.3(OFD1):c.43A>G (p.Ser15Gly)	LOC126863212, OFD1 (S15G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 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)	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)	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 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 2028172	NM_003611.3(OFD1):c.42G>A (p.Leu14=)	LOC126863212, OFD1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GLikely benign
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 1993776	NM_001011658.4(TRAPPC2):c.324+1G>A	OFD1, TRAPPC2	Single nucleotide variant (splice donor 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 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 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 1917586	NM_001011658.4(TRAPPC2):c.48A>C (p.Pro16=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1802535	NM_001011658.4(TRAPPC2):c.137_138del (p.Leu46fs)	OFD1, TRAPPC2 (L46fs +1 more)	Microsatellite (frameshift variant)	Spondyloepiphyseal dysplasia tarda, X-linked	GPathogenic
Select item 1706552	NM_001011658.4(TRAPPC2):c.-19G>T	OFD1, TRAPPC2 (R28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Spondyloepiphyseal dysplasia tarda, X-linked	GUncertain significance
Select item 1702495	NM_001011658.4(TRAPPC2):c.-161-2A>C	LOC126863212, OFD1 +1 more	Single nucleotide variant (intron variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 1677963	NM_003611.3(OFD1):c.-40C>T	LOC126863212, OFD1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 1662760	NM_001011658.4(TRAPPC2):c.325-12C>T	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640603	NM_001011658.4(TRAPPC2):c.111G>A (p.Leu37=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1625101	NM_001011658.4(TRAPPC2):c.239-20T>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1576155	NM_001011658.4(TRAPPC2):c.94-6A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 1492845	NM_001011658.4(TRAPPC2):c.325-1G>C	OFD1, TRAPPC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1401792	NM_003611.3(OFD1):c.53A>C (p.Glu18Ala)	LOC126863212, OFD1 (E18A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 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 1374119	NM_003611.3(OFD1):c.109A>G (p.Lys37Glu)	LOC126863212, OFD1 (K37E)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
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 1344688	NM_003611.3(OFD1):c.2868del (p.Pro957fs)	OFD1 (P817fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GLikely pathogenic
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 1319148	NM_003611.3(OFD1):c.412+965C>T	OFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288847	NM_001011658.4(TRAPPC2):c.93+271G>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268371	NM_001011658.4(TRAPPC2):c.238+114A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262409	NM_001011658.4(TRAPPC2):c.94-126_94-123dup	OFD1, TRAPPC2	Duplication (intron variant)	not provided	GBenign
Select item 1241759	NM_001011658.4(TRAPPC2):c.325-270C>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235588	NM_003611.3(OFD1):c.12+79T>G	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228629	NM_001011658.4(TRAPPC2):c.93+61del	OFD1, TRAPPC2	Deletion (intron variant)	not provided	GBenign
Select item 1220213	NC_000023.11:g.13734693C>A	LOC126863212, OFD1	Single nucleotide variant	not provided	GLikely benign
Select item 1218894	NM_003611.3(OFD1):c.-315G>C	LOC126863212, OFD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1217469	NM_001011658.4(TRAPPC2):c.-162+107dup	LOC126863212, OFD1 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1215288	NM_001011658.4(TRAPPC2):c.324+54T>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211953	NC_000023.11:g.13734708T>G	LOC126863212, OFD1	Single nucleotide variant	not provided	GLikely benign
Select item 1205624	NM_003611.3(OFD1):c.13-59T>G	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199232	NM_003611.3(OFD1):c.50A>G (p.Asp17Gly)	LOC126863212, OFD1 (D17G)	Single nucleotide variant (missense variant +1 more)	OFD1-related ciliopathy	GUncertain significance
Select item 1198255	NM_001011658.4(TRAPPC2):c.238+134G>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193290	NM_001011658.4(TRAPPC2):c.-20+229G>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179985	NM_003611.3(OFD1):c.111+163C>T	LOC126863212, OFD1	Single nucleotide variant (intron variant)	not provided	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 1178849	NM_001011658.4(TRAPPC2):c.-146C>A	LOC126863212, OFD1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1176593	NM_001011658.4(TRAPPC2):c.107del (p.His36fs)	OFD1, TRAPPC2 (H36fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1158105	NM_003611.3(OFD1):c.12+10C>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
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 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

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