EXT2[gene] - ClinVar - NCBI

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	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 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 304563	NM_207122.1(EXT2):c.-331T>C	EXT2, LOC130005598	Single nucleotide variant	Exostoses, multiple, type 2 +1 more	GBenign
Select item 304564	NM_207122.1(EXT2):c.-311G>A	EXT2, LOC130005598	Single nucleotide variant	Exostoses, multiple, type 2 +1 more	GBenign
Select item 304565	NM_207122.1(EXT2):c.-307G>T	EXT2, LOC130005598	Single nucleotide variant	Exostoses, multiple, type 2	GUncertain significance
Select item 877956	NM_207122.1(EXT2):c.-242G>T	EXT2, LOC130005598	Single nucleotide variant	Exostoses, multiple, type 2	GUncertain significance
Select item 304566	NM_207122.2(EXT2):c.-197C>G	EXT2, LOC130005598	Single nucleotide variant (5 prime UTR variant)	Exostoses, multiple, type 2	GBenign
Select item 304567	NM_207122.2(EXT2):c.-148G>A	EXT2, LOC130005598	Single nucleotide variant (5 prime UTR variant)	Exostoses, multiple, type 2	GBenign
Select item 304568	NM_207122.2(EXT2):c.-61C>G	EXT2, LOC130005598	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 878114	NM_207122.2(EXT2):c.-45G>T	EXT2, LOC130005598	Single nucleotide variant (5 prime UTR variant)	Exostoses, multiple, type 2	GUncertain significance
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 1691540	NM_207122.2(EXT2):c.-31+453A>G	EXT2 (Q18R)	Single nucleotide variant (missense variant +2 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 2445407	NM_207122.2(EXT2):c.-31+465A>G	EXT2 (D22G)	Single nucleotide variant (missense variant +2 more)	Ovarian cancer	GBenign
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 583463	NC_000011.10:g.(?_44107663)_(44130158_?)del	EXT2, LOC130005600 +1 more	Deletion	Exostoses, multiple, type 2	GPathogenic
Select item 1691544	NM_207122.2(EXT2):c.-30-10T>A	EXT2	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GUncertain significance
Select item 304570	NM_207122.2(EXT2):c.-26G>T	EXT2 (C25F)	Single nucleotide variant (missense variant +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 304571	NM_207122.2(EXT2):c.8C>T (p.Ala3Val)	EXT2 (A3V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1563037	NM_207122.2(EXT2):c.9G>A (p.Ala3=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 304572	NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)	EXT2 (S37L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 2897989	NM_207122.2(EXT2):c.12G>A (p.Ser4=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1581326	NM_207122.2(EXT2):c.18G>A (p.Lys6=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2886981	NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)	EXT2 (Y40C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2908538	NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)	EXT2 (N8D +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2169909	NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)	EXT2 (R10W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
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 304573	NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)	EXT2 (G44S +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2899349	NM_207122.2(EXT2):c.33T>C (p.Gly11=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1062097	NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)	EXT2 (A13T +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 878115	NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)	EXT2 (R50K +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 426966	NM_207122.2(EXT2):c.56del (p.Lys19fs)	EXT2 (K52fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3091277	NM_207122.2(EXT2):c.56A>G (p.Lys19Arg)	EXT2 (K52R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511959	NM_207122.2(EXT2):c.61A>G (p.Lys21Glu)	EXT2 (K21E +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1074447	NM_207122.2(EXT2):c.64_68del (p.His22fs)	EXT2 (H22fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 970342	NM_207122.2(EXT2):c.65A>G (p.His22Arg)	EXT2 (H22R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
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 2550813	NM_207122.2(EXT2):c.68G>A (p.Arg23Gln)	EXT2 (R23Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423522	NM_207122.2(EXT2):c.69A>T (p.Arg23=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2843642	NM_207122.2(EXT2):c.82_143del (p.Thr28fs)	EXT2 (T28fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2188347	NM_207122.2(EXT2):c.84C>A (p.Thr28=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1641745	NM_207122.2(EXT2):c.84C>T (p.Thr28=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
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 1454141	NM_207122.2(EXT2):c.89del (p.Phe30fs)	EXT2 (F30fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2440120	NM_207122.2(EXT2):c.93del (p.Ile32fs)	EXT2 (I32fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1153301	NM_207122.2(EXT2):c.93C>T (p.Ser31=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1414506	NM_207122.2(EXT2):c.94A>G (p.Ile32Val)	EXT2 (I65V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241463	NM_207122.2(EXT2):c.98T>A (p.Val33Asp)	EXT2 (V33D +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3059248	NM_207122.2(EXT2):c.111C>T (p.Leu37=)	EXT2	Single nucleotide variant (synonymous variant)	EXT2-related disorder	GLikely benign
Select item 1093716	NM_207122.2(EXT2):c.117C>T (p.Ala39=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
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 944624	NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)	EXT2	Indel (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 3241479	NM_207122.2(EXT2):c.140C>A (p.Pro47His)	EXT2 (P47H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675223	NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)	EXT2 (P47L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 717623	NM_207122.2(EXT2):c.143A>T (p.His48Leu)	EXT2 (H81L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GBenign
Select item 2182669	NM_207122.2(EXT2):c.147T>G (p.Ser49=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2675212	NM_207122.2(EXT2):c.148A>G (p.Ile50Val)	EXT2 (I50V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1599409	NM_207122.2(EXT2):c.150C>T (p.Ile50=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GBenign
Select item 879573	NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)	EXT2 (E51K +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3276863	NM_207122.2(EXT2):c.155C>A (p.Ser52Tyr)	EXT2 (S85Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343771	NM_207122.2(EXT2):c.156C>G (p.Ser52=)	EXT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2431585	NM_207122.2(EXT2):c.168G>A (p.Trp56Ter)	EXT2 (W56* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 3377770	NM_207122.2(EXT2):c.181C>T (p.Arg61Cys)	EXT2 (R61C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675196	NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)	EXT2 (R61L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1095955	NM_207122.2(EXT2):c.182G>A (p.Arg61His)	EXT2 (R61H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2675224	NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)	EXT2 (R64C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1632668	NM_207122.2(EXT2):c.192T>C (p.Arg64=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 879574	NM_207122.2(EXT2):c.198G>C (p.Val66=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GConflicting classifications of pathogenicity
Select item 2140328	NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)	EXT2 (P100L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 879575	NM_207122.2(EXT2):c.201G>A (p.Pro67=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GBenign
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 304574	NM_207122.2(EXT2):c.205G>A (p.Val69Ile)	EXT2 (V102I +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2417133	NM_207122.2(EXT2):c.210G>A (p.Arg70=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1587047	NM_207122.2(EXT2):c.211C>T (p.Leu71=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 853306	NM_207122.2(EXT2):c.211del (p.Leu71fs)	EXT2 (L71fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 1635329	NM_207122.2(EXT2):c.219C>T (p.Ala73=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2675225	NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)	EXT2 (D107N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1019036	NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)	EXT2 (P109T +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 134209	NM_207122.2(EXT2):c.232C>G (p.Pro78Ala)	EXT2 (P111A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2073963	NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)	EXT2 (E112G +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1457792	NM_207122.2(EXT2):c.244dup (p.Asp82fs)	EXT2 (D115fs +1 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2	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 623133	NM_207122.2(EXT2):c.238del (p.Arg80fs)	EXT2 (R113fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 850072	NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)	EXT2 (R80Q +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 465699	NM_207122.2(EXT2):c.244del (p.Asp82fs)	EXT2 (D115fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
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 3374740	NM_207122.2(EXT2):c.245del (p.Asp82fs)	EXT2 (D115fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GLikely pathogenic

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