Related gene-specific medical variations for Gene (Select 6399) - ClinVar

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

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 912342	NM_001011658.4(TRAPPC2):c.-19-3T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
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 872686	NM_001011658.4(TRAPPC2):c.239-1_239insTATTTCATA	OFD1, TRAPPC2	Insertion (splice acceptor variant)	not provided	GPathogenic
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 723476	NM_001011658.4(TRAPPC2):c.114C>T (p.Asn38=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694600	NM_001011658.4(TRAPPC2):c.216_217del (p.Ser73fs)	OFD1, TRAPPC2 (S107fs +1 more)	Microsatellite (frameshift variant)	Spondyloepiphyseal dysplasia tarda	GPathogenic
Select item 623472	NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs)	OFD1, TRAPPC2 (D14fs +1 more)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia tarda	GPathogenic
Select item 623471	NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu)	OFD1, TRAPPC2 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepiphyseal dysplasia tarda	GPathogenic
Select item 367996	NM_001011658.4(TRAPPC2):c.-179G>C	LOC126863212, OFD1 +1 more	Single nucleotide variant (5 prime UTR variant)	Spondyloepiphyseal dysplasia tarda	GUncertain significance
Select item 212743	NM_001011658.4(TRAPPC2):c.-97G>A	OFD1, TRAPPC2 (W4*)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 127114	NM_001011658.4(TRAPPC2):c.239-11_239-9del	OFD1, TRAPPC2	Deletion (intron variant)	Spondyloepiphyseal dysplasia tarda	GPathogenic
Select item 11516	NM_001011658.4(TRAPPC2):c.238+4T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia tarda	GPathogenic
Select item 11513	NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)	OFD1, TRAPPC2 (F83S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 11512	NM_001011658.4(TRAPPC2):c.93+5G>A	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 11510	NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)	OFD1, TRAPPC2 (Q125fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 11509	NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs)	OFD1, TRAPPC2 (M53fs +1 more)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia tarda	GPathogenic
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 11507	NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer)	OFD1, TRAPPC2	Deletion (nonsense)	Spondyloepiphyseal dysplasia tarda	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68