ClinVar for Gene (Select 6399) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
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 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 2759012	NM_001011658.4(TRAPPC2):c.409C>T (p.His137Tyr)	TRAPPC2 (H137Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2706464	NM_001011658.4(TRAPPC2):c.376T>C (p.Phe126Leu)	TRAPPC2 (F160L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685734	GRCh37/hg19 Xp22.2(chrX:13559345-13821998)x2	EGFL6, GPM6B +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684969	GRCh37/hg19 Xp22.2(chrX:13573330-14145295)x3	EGFL6, GEMIN8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2660028	NM_001011658.4(TRAPPC2):c.*402C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2437253	NM_001011658.4(TRAPPC2):c.351del (p.Asn118fs)	TRAPPC2 (N118fs +1 more)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia tarda, X-linked	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 2424708	NC_000023.10:g.(?_13734103)_(13787227_?)dup	OFD1, TRAPPC2	Duplication	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2423466	NC_000023.10:g.(?_12885698)_(13787227_?)del	FAM9C, ATXN3L +8 more	Deletion	Orofaciodigital syndrome I +1 more	GPathogenic
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 2191074	NM_001011658.4(TRAPPC2):c.138C>T (p.Leu46=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2183506	NM_001011658.4(TRAPPC2):c.204C>T (p.Asn68=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2075583	NM_001011658.4(TRAPPC2):c.423A>C (p.Ter141Cys)	TRAPPC2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
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 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 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	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 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1701592	NM_001011658.4(TRAPPC2):c.382A>T (p.Arg128Ter)	TRAPPC2 (R128* +1 more)	Single nucleotide variant (nonsense)	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 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 1526759	GRCh37/hg19 Xp22.2(chrX:13442761-14007694)	EGFL6, GPM6B +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526758	GRCh37/hg19 Xp22.2(chrX:13255617-13915678)	ATXN3L, EGFL6 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1520870	NM_001011658.4(TRAPPC2):c.410A>C (p.His137Pro)	TRAPPC2 (H137P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1492845	NM_001011658.4(TRAPPC2):c.325-1G>C	OFD1, TRAPPC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1477605	NC_000023.10:g.(?_13732526)_(13762658_?)dup	OFD1, TRAPPC2	Duplication	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 1457801	NM_001011658.4(TRAPPC2):c.364C>T (p.Arg122Ter)	TRAPPC2 (R122* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457497	NM_001011658.4(TRAPPC2):c.329C>G (p.Ser110Ter)	TRAPPC2 (S110* +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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1332782	NM_001011658.4(TRAPPC2):c.239-10_239-7del	OFD1, TRAPPC2	Deletion (intron variant)	TRAPPC2-related disorder +2 more	GConflicting classifications of pathogenicity
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 1252568	NM_001011658.4(TRAPPC2):c.*263del	TRAPPC2	Deletion (3 prime UTR 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 1228629	NM_001011658.4(TRAPPC2):c.93+61del	OFD1, TRAPPC2	Deletion (intron variant)	not provided	GBenign
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 1203558	NM_001011658.4(TRAPPC2):c.*29C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 1187067	NM_001011658.4(TRAPPC2):c.261_263dup	TRAPPC2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1178849	NM_001011658.4(TRAPPC2):c.-146C>A	LOC126863212, OFD1 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1178039	NM_001011658.4(TRAPPC2):c.262_263dup	TRAPPC2	Duplication (3 prime UTR variant)	not provided	GBenign
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 997993	NM_001011658.4(TRAPPC2):c.324+1G>T	OFD1, TRAPPC2	Single nucleotide variant (splice donor variant)	Spondyloepiphyseal dysplasia tarda	GLikely pathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980285	GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3	MSL3, GEMIN8 +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 931726	NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr)	OFD1, TRAPPC2 (M59T +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915066	NM_001011658.4(TRAPPC2):c.*332C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915065	NM_001011658.4(TRAPPC2):c.*333G>A	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GLikely benign
Select item 915023	NM_001011658.4(TRAPPC2):c.*1288T>G	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915022	NM_001011658.4(TRAPPC2):c.*1436C>G	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GBenign
Select item 915021	NM_001011658.4(TRAPPC2):c.*1436C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915020	NM_001011658.4(TRAPPC2):c.*1442C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915019	NM_001011658.4(TRAPPC2):c.*1443G>A	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GBenign
Select item 915018	NM_001011658.4(TRAPPC2):c.*1486G>A	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 915017	NM_001011658.4(TRAPPC2):c.*1634G>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GBenign
Select item 914539	NM_001011658.4(TRAPPC2):c.*522G>A	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 914538	NM_001011658.4(TRAPPC2):c.*546G>A	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GBenign
Select item 914537	NM_001011658.4(TRAPPC2):c.*670C>T	TRAPPC2	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance

<< First< Prev

Page of 4