EXT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 146552	GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1	LOC110120802, LOC111556135 +93 more	Copy number loss	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155482	GRCh38/hg38 8q24.11(chr8:117409337-117879798)x1	EXT1, LOC108491824 +2 more	Copy number loss	See cases	GPathogenic
Select item 1684648	NM_000127.3(EXT1):c.2055+52_*298del	EXT1	Deletion (splice acceptor variant)	Exostoses, multiple, type 1	GPathogenic
Select item 910868	NM_000127.3(EXT1):c.*182A>C	EXT1	Single nucleotide variant (3 prime UTR variant)	Multiple congenital exostosis	GUncertain significance
Select item 361650	NM_000127.3(EXT1):c.*151T>C	EXT1	Single nucleotide variant (3 prime UTR variant)	Multiple congenital exostosis	GUncertain significance
Select item 361651	NM_000127.3(EXT1):c.*146G>C	EXT1	Single nucleotide variant (3 prime UTR variant)	Multiple congenital exostosis	GUncertain significance
Select item 1190764	NM_000127.3(EXT1):c.*144dup	EXT1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1225997	NM_000127.3(EXT1):c.*144del	EXT1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 361652	NM_000127.3(EXT1):c.*82C>G	EXT1	Single nucleotide variant (3 prime UTR variant)	Multiple congenital exostosis	GUncertain significance
Select item 1304454	NM_000127.3(EXT1):c.2233C>T (p.Arg745Ter)	EXT1 (R745*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2015774	NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)	EXT1 (D742E)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 912087	NM_000127.3(EXT1):c.2205T>C (p.Ile735=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GUncertain significance
Select item 2919324	NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)	EXT1 (I735V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 1702964	NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs)	EXT1 (V733fs)	Indel (frameshift variant)	Exostoses, multiple, type 1	GUncertain significance
Select item 1570568	NM_000127.3(EXT1):c.2199C>G (p.Val733=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 1103572	NM_000127.3(EXT1):c.2199C>T (p.Val733=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 1035858	NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)	EXT1 (Q732R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2684395	NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)	EXT1 (Q732*)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 1	GUncertain significance
Select item 1312273	NM_000127.3(EXT1):c.2191G>C (p.Asp731His)	EXT1 (D731H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055567	NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)	EXT1 (V727I)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GLikely benign
Select item 783178	NM_000127.3(EXT1):c.2178C>T (p.Pro726=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GBenign
Select item 1132498	NM_000127.3(EXT1):c.2172C>T (p.Leu724=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis +1 more	GLikely benign
Select item 1439971	NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)	EXT1 (L724P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2143263	NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)	EXT1 (L724F)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2198318	NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)	EXT1 (Q721E)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 912088	NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)	EXT1 (S720C)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2617475	NM_000127.3(EXT1):c.2156A>T (p.His719Leu)	EXT1 (H719L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006710	NM_000127.3(EXT1):c.2156A>C (p.His719Pro)	EXT1 (H719P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 497792	NM_000127.3(EXT1):c.2148G>A (p.Pro716=)	EXT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802435	NM_000127.3(EXT1):c.2143A>G (p.Met715Val)	EXT1 (M715V)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1	GUncertain significance
Select item 2187073	NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)	EXT1 (F712L)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 1306269	NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)	EXT1 (W711*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis +1 more	GConflicting classifications of pathogenicity
Select item 191230	NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)	EXT1 (W711*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis +1 more	GPathogenic/Likely pathogenic
Select item 1369192	NM_000127.3(EXT1):c.2131del (p.Trp711fs)	EXT1 (W711fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 2675174	NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)	EXT1 (A709S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1430295	NM_000127.3(EXT1):c.2121G>A (p.Thr707=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 1479598	NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)	EXT1 (T707M)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 955891	NM_000127.3(EXT1):c.2119dup (p.Thr707fs)	EXT1 (T707fs)	Duplication (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 949554	NM_000127.3(EXT1):c.2115del (p.Met705fs)	EXT1 (M705fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 1668457	NM_000127.3(EXT1):c.2106G>A (p.Gln702=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 526307	NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)	EXT1 (Q702*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis	GPathogenic
Select item 488691	NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)	EXT1 (R701*)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1164204	NM_000127.3(EXT1):c.2100G>A (p.Gln700=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GBenign
Select item 2444876	NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)	EXT1 (Q700K)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1 +1 more	GUncertain significance
Select item 2418712	NM_000127.3(EXT1):c.2079T>C (p.Ala693=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 931284	NM_000127.3(EXT1):c.2077del (p.Ala693fs)	EXT1 (A693fs)	Deletion (frameshift variant)	Exostoses, multiple, type 1 +1 more	GPathogenic
Select item 802436	NM_000127.3(EXT1):c.2072G>A (p.Arg691His)	EXT1 (R691H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GUncertain significance
Select item 1362916	NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)	EXT1 (R691C)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 3241457	NM_000127.3(EXT1):c.2069C>G (p.Ser690Cys)	EXT1 (S690C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2978766	NM_000127.3(EXT1):c.2067T>G (p.Ala689=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2885712	NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)	EXT1 (A689S)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2675171	NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)	EXT1 (A689T)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675152	NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)	EXT1 (R688Q)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1548975	NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)	EXT1 (R688W)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GConflicting classifications of pathogenicity
Select item 526309	NM_000127.3(EXT1):c.2059del (p.Ser687fs)	EXT1 (S687fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 2079558	NM_000127.3(EXT1):c.2056-14C>G	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 1611749	NM_000127.3(EXT1):c.2056-14C>T	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 1931897	NM_000127.3(EXT1):c.2055+20del	EXT1	Deletion (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 1547590	NM_000127.3(EXT1):c.2055+17C>T	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2892002	NM_000127.3(EXT1):c.2055+10G>A	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 750576	NM_000127.3(EXT1):c.2055+7A>C	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 953215	NM_000127.3(EXT1):c.2055+5G>A	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GUncertain significance
Select item 2675190	NM_000127.3(EXT1):c.2055+2dup	EXT1	Duplication (splice donor variant)	Chondrosarcoma	GLikely pathogenic
Select item 2675179	NM_000127.3(EXT1):c.2055+1G>C	EXT1	Single nucleotide variant (splice donor variant)	Chondrosarcoma	GLikely pathogenic
Select item 946511	NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)	EXT1 (Q685*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis	GPathogenic
Select item 834281	NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)	EXT1 (M682fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 1553494	NM_000127.3(EXT1):c.2043A>T (p.Thr681=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 488826	NM_000127.3(EXT1):c.2034T>G (p.Tyr678Ter)	EXT1 (Y678*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 949553	NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)	EXT1 (Q677*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis	GPathogenic
Select item 850437	NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)	EXT1 (K676*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis	GPathogenic
Select item 2418636	NM_000127.3(EXT1):c.2016G>A (p.Val672=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 1091438	NM_000127.3(EXT1):c.2010C>T (p.Ile670=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 581676	NM_000127.3(EXT1):c.2004del (p.Pro669fs)	EXT1 (P669fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 430552	NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)	EXT1 (L667*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis +1 more	GPathogenic
Select item 1069692	NM_000127.3(EXT1):c.1998dup (p.Leu667fs)	EXT1 (L667fs)	Duplication (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 2751969	NM_000127.3(EXT1):c.1998A>G (p.Lys666=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2128507	NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)	EXT1 (A663P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 1597765	NM_000127.3(EXT1):c.1983G>A (p.Val661=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign

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