"GeneDx"[submitter] AND "EXT2"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 304569	NM_207122.2(EXT2):c.-31+7G>T	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1248779	NM_207122.2(EXT2):c.-31+22G>A	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236902	NM_207122.2(EXT2):c.-31+42A>G	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321817	NM_207122.2(EXT2):c.-31+106C>T	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182129	NM_207122.2(EXT2):c.-31+474G>A	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287445	NM_207122.2(EXT2):c.-31+496T>G	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220098	NM_207122.2(EXT2):c.-31+657G>A	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289926	NM_207122.2(EXT2):c.-30-147A>T	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327344	NM_207122.2(EXT2):c.-30-80A>C	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195445	NM_207122.2(EXT2):c.28C>A (p.Arg10=)	EXT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 426966	NM_207122.2(EXT2):c.56del (p.Lys19fs)	EXT2 (K52fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 534138	NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)	EXT2 (R23* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265701	NM_207122.2(EXT2):c.87_88del (p.Phe30fs)	EXT2 (F30fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 134207	NM_207122.2(EXT2):c.124A>G (p.Met42Val)	EXT2 (M42V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 948798	NM_207122.2(EXT2):c.203_258del (p.Val68fs)	EXT2 (V68fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1008439	NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)	EXT2 (R113W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449018	NM_207122.2(EXT2):c.245dup (p.Asp82fs)	EXT2 (D115fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 134211	NM_207122.2(EXT2):c.260T>G (p.Met87Arg)	EXT2 (M120R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 304576	NM_207122.2(EXT2):c.264C>T (p.His88=)	EXT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 940247	NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)	EXT2 (Y140* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 1510270	NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)	EXT2 (E165Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 279944	NM_207122.2(EXT2):c.398_401dup (p.Met135fs)	EXT2 (M135fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 817826	NM_207122.2(EXT2):c.442_455del (p.Asn148fs)	EXT2 (N181fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 817343	NM_207122.2(EXT2):c.481_482dup (p.Asn161fs)	EXT2 (N161fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2472	NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	EXT2 (Q172* +1 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +3 more	GPathogenic
Select item 1211965	NM_207122.2(EXT2):c.536+1G>A	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 1237927	NM_207122.2(EXT2):c.536+132G>C	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179281	NM_207122.2(EXT2):c.537-79A>C	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265472	NM_207122.2(EXT2):c.539G>A (p.Trp180Ter)	EXT2 (W180* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265133	NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)	EXT2 (R182* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 534136	NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)	EXT2	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265473	NM_207122.2(EXT2):c.580G>T (p.Gly194Ter)	EXT2 (G194* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 879931	NM_207122.2(EXT2):c.605C>T (p.Ala202Val)	EXT2 (A235V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 503618	NM_207122.2(EXT2):c.626+1G>A	EXT2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 381659	NM_207122.2(EXT2):c.626+1G>T	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1184718	NM_207122.2(EXT2):c.626+3A>C	EXT2	Single nucleotide variant (intron variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 1199043	NM_207122.2(EXT2):c.626+262C>G	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293661	NM_207122.2(EXT2):c.627-187T>A	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419409	NM_207122.2(EXT2):c.627-2A>G	EXT2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 134212	NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)	EXT2 (S237L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 265474	NM_207122.2(EXT2):c.743+1G>A	EXT2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1289107	NM_207122.2(EXT2):c.743+143C>T	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265814	NM_207122.2(EXT2):c.744-83_744-82insG	EXT2	Insertion (intron variant)	not provided	GBenign
Select item 1293660	NM_207122.2(EXT2):c.744-82A>G	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285887	NM_207122.2(EXT2):c.744-82A>T	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504053	NM_207122.2(EXT2):c.785dup (p.His262fs)	EXT2 (H262fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1707356	NM_207122.2(EXT2):c.795C>G (p.Tyr265Ter)	EXT2 (Y265* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1712112	NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)	EXT2 (E291* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 279805	NM_207122.2(EXT2):c.906_907dup (p.His303fs)	EXT2 (H336fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2 +2 more	GPathogenic
Select item 304582	NM_207122.2(EXT2):c.918C>T (p.Phe306=)	EXT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 265134	NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)	EXT2 (Q313* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 1266226	NM_207122.2(EXT2):c.939+30G>A	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216365	NM_207122.2(EXT2):c.940-203A>G	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1710776	NM_207122.2(EXT2):c.940-79A>C	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 997455	NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)	EXT2 (R325Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307214	NM_207122.2(EXT2):c.979G>C (p.Gly327Arg)	EXT2 (G327R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 304584	NM_207122.2(EXT2):c.999T>C (p.Asp333=)	EXT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 429216	NM_207122.2(EXT2):c.1021C>A (p.Pro341Thr)	EXT2 (P341T +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 134215	NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)	EXT2 (P341L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392879	NM_207122.2(EXT2):c.1023G>A (p.Pro341=)	EXT2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1287172	NM_207122.2(EXT2):c.1080-138T>C	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242866	NM_207122.2(EXT2):c.1080-115G>T	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 198636	NM_207122.2(EXT2):c.1080-18T>A	EXT2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 134217	NM_207122.2(EXT2):c.1110G>T (p.Met370Ile)	EXT2 (M370I +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GBenign
Select item 1274449	NM_207122.2(EXT2):c.1174-270C>A	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263286	NM_207122.2(EXT2):c.1174-18G>T	EXT2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 960792	NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)	EXT2 (W427* +1 more)	Single nucleotide variant (nonsense +1 more)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 449480	NM_207122.2(EXT2):c.1182G>A (p.Trp394Ter)	EXT2 (W394* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1073638	NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)	EXT2 (Q412* +1 more)	Single nucleotide variant (nonsense +1 more)	Exostoses, multiple, type 2 +1 more	GPathogenic
Select item 817044	NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs)	EXT2 (A432fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1289611	NM_207122.2(EXT2):c.1305+126T>C	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210742	NM_207122.2(EXT2):c.1305+254G>C	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285992	NM_207122.2(EXT2):c.1306-93C>T	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450237	NM_207122.2(EXT2):c.1479T>G (p.Asn493Lys)	LOC126861201, EXT2 (N493K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191892	NM_207122.2(EXT2):c.1495+137G>A	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2506796	NM_207122.2(EXT2):c.1496-209del	EXT2	Deletion (intron variant)	not provided	GLikely benign
Select item 2506753	NM_207122.2(EXT2):c.1496-204_1496-195del	EXT2	Deletion (intron variant)	not provided	GLikely benign
Select item 1287420	NM_207122.2(EXT2):c.1496-195C>T	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258593	NM_207122.2(EXT2):c.1496-109G>A	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710947	NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)	EXT2 (R562W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3340899	NM_207122.2(EXT2):c.1705C>T (p.Arg569Cys)	EXT2 (R569C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574258	NM_207122.2(EXT2):c.1706G>A (p.Arg569His)	EXT2 (R569H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504369	NM_207122.2(EXT2):c.1744T>C (p.Tyr582His)	EXT2 (Y582H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134204	NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)	EXT2 (T587M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1166104	NM_207122.2(EXT2):c.1807-51T>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2 +1 more	GBenign
Select item 423047	NM_207122.2(EXT2):c.1929del (p.Ile644fs)	EXT2 (I644fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1197507	NM_207122.2(EXT2):c.1936-179C>T	EXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199902	NM_207122.2(EXT2):c.1936-134GT[10]	EXT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1263728	NM_207122.2(EXT2):c.1936-66G>C	EXT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263290	NM_207122.2(EXT2):c.1936-41T>C	EXT2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 838313	NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	EXT2 (R682* +2 more)	Single nucleotide variant (nonsense)	Seizures-scoliosis-macrocephaly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3376050	NM_207122.2(EXT2):c.2091C>A (p.Asp697Glu)	EXT2 (D697E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360496	NM_207122.2(EXT2):c.50G>C (p.Arg17Thr)	EXT2 (R17T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 94