ClinVar for Gene (Select 2131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370079	NM_000127.3(EXT1):c.1420T>G (p.Leu474Val)	EXT1 (L474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362901	NM_000127.3(EXT1):c.1673_1684del (p.Thr558_Leu562delinsIle)	EXT1	Deletion (inframe_indel)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 3362529	NM_000127.3(EXT1):c.518del (p.Asn173fs)	EXT1 (N173fs)	Deletion (frameshift variant)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 3350513	NM_000127.3(EXT1):c.1000_1001insA (p.Cys334Ter)	EXT1 (C334*)	Insertion (nonsense)	EXT1-related disorder	GPathogenic
Select item 3347991	NM_000127.3(EXT1):c.1890T>A (p.Tyr630Ter)	EXT1 (Y630*)	Single nucleotide variant (nonsense)	EXT1-related disorder	GLikely pathogenic
Select item 3345995	NM_000127.3(EXT1):c.640_650del (p.Ala214fs)	EXT1 (A214fs)	Deletion (frameshift variant)	EXT1-related disorder	GLikely pathogenic
Select item 3345881	NM_000127.3(EXT1):c.878_901del (p.Val293_His300del)	EXT1	Deletion (inframe_deletion +1 more)	EXT1-related disorder	GUncertain significance
Select item 3344329	NM_000127.3(EXT1):c.1023G>T (p.Arg341Ser)	EXT1 (R341S)	Single nucleotide variant (missense variant)	EXT1-related disorder	GLikely pathogenic
Select item 3340273	NM_000127.3(EXT1):c.742_743del (p.Arg248fs)	EXT1 (R248fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3340271	NM_000127.3(EXT1):c.786C>G (p.Tyr262Ter)	EXT1 (Y262*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340270	NM_000127.3(EXT1):c.1298_1299del (p.Arg433fs)	EXT1 (R433fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3337084	NM_000127.3(EXT1):c.1723-1G>A	EXT1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3276862	NM_000127.3(EXT1):c.1559A>C (p.Asp520Ala)	EXT1 (D520A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256128	NM_000127.3(EXT1):c.89_90insCT (p.Ser31fs)	EXT1 (S31fs)	Insertion (frameshift variant)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245410	NC_000008.10:g.(?_118596815)_(118825146_?)del	EXT1	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3245409	NC_000008.10:g.(?_118788188)_(118817001_?)del	EXT1	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3245408	NC_000008.10:g.(?_119120510)_(119123163_?)del	EXT1	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3245407	NC_000008.10:g.(?_118830654)_(118849460_?)dup	EXT1	Duplication	Multiple congenital exostosis	GLikely pathogenic
Select item 3245406	NC_000008.10:g.(?_118811951)_(118849450_?)dup	EXT1	Duplication	Multiple congenital exostosis	GUncertain significance
Select item 3245405	NC_000008.10:g.(?_119122304)_(119123285_?)dup	EXT1	Duplication	Multiple congenital exostosis	GUncertain significance
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	GUncertain significance
Select item 3245403	NC_000008.10:g.(?_118847663)_(118847810_?)del	EXT1	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3245402	NC_000008.10:g.(?_118649470)_(122282519_?)del	CCN3, COL14A1 +12 more	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3241458	NM_000127.3(EXT1):c.1297A>G (p.Arg433Gly)	EXT1 (R433G)	Single nucleotide variant (missense variant)	Chondrosarcoma	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 3241456	NM_000127.3(EXT1):c.1403A>T (p.Tyr468Phe)	EXT1 (Y468F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241455	NM_000127.3(EXT1):c.1698G>C (p.Glu566Asp)	EXT1 (E566D)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241454	NM_000127.3(EXT1):c.276C>G (p.Ile92Met)	EXT1 (I92M)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241453	NM_000127.3(EXT1):c.1429C>A (p.Pro477Thr)	EXT1 (P477T)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241452	NM_000127.3(EXT1):c.1814G>T (p.Arg605Leu)	EXT1 (R605L)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241451	NM_000127.3(EXT1):c.650_653delinsTTTG (p.Ala217_Lys218delinsValTer)	EXT1	Indel (nonsense)	Chondrosarcoma	GLikely pathogenic
Select item 3241450	NM_000127.3(EXT1):c.190C>G (p.Pro64Ala)	EXT1 (P64A)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241449	NM_000127.3(EXT1):c.1603C>T (p.Pro535Ser)	EXT1 (P535S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241448	NM_000127.3(EXT1):c.1295A>G (p.Asp432Gly)	EXT1 (D432G)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241447	NM_000127.3(EXT1):c.431A>G (p.Tyr144Cys)	EXT1 (Y144C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241446	NM_000127.3(EXT1):c.63T>G (p.Phe21Leu)	EXT1 (F21L)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241445	NM_000127.3(EXT1):c.78G>T (p.Leu26Phe)	EXT1 (L26F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241444	NM_000127.3(EXT1):c.1237G>A (p.Glu413Lys)	EXT1 (E413K)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241443	NM_000127.3(EXT1):c.1532C>T (p.Ala511Val)	EXT1 (A511V)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241442	NM_000127.3(EXT1):c.359C>A (p.Pro120Gln)	EXT1 (P120Q)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241441	NM_000127.3(EXT1):c.956A>G (p.Tyr319Cys)	EXT1 (Y319C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241440	NM_000127.3(EXT1):c.1646G>A (p.Arg549His)	EXT1 (R549H)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3234996	NM_000127.3(EXT1):c.1645C>T (p.Arg549Cys)	EXT1 (R549C)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1	GUncertain significance
Select item 3091273	NM_000127.3(EXT1):c.918G>T (p.Lys306Asn)	EXT1 (K306N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069172	NM_000127.3(EXT1):c.1722+1G>C	EXT1	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 1	GPathogenic
Select item 3067740	NM_000127.3(EXT1):c.1536+2T>G	EXT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3064940	NM_000127.3(EXT1):c.1388del (p.Gly463fs)	EXT1 (G463fs)	Deletion (frameshift variant)	Exostoses, multiple, type 1	GLikely pathogenic
Select item 3063054	GRCh37/hg19 8q24.11(chr8:118721155-118839384)x1	EXT1	Copy number loss	not specified	GPathogenic
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061287	NM_000127.3(EXT1):c.1884-2A>G	EXT1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3060520	NM_000127.3(EXT1):c.1044G>A (p.Leu348=)	EXT1	Single nucleotide variant (synonymous variant)	EXT1-related disorder	GLikely benign
Select item 3030008	NM_000127.3(EXT1):c.1118dup (p.Asn373fs)	EXT1 (N373fs)	Duplication (frameshift variant)	EXT1-related disorder	GLikely pathogenic
Select item 3029978	NM_000127.3(EXT1):c.995C>G (p.Thr332Ser)	EXT1 (T332S)	Single nucleotide variant (missense variant)	EXT1-related disorder	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 3024192	NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)	EXT1 (A282T)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1	GLikely benign
Select item 3022547	NM_000127.3(EXT1):c.1883+6del	EXT1	Deletion (intron variant)	Multiple congenital exostosis	GUncertain significance
Select item 3019226	NM_000127.3(EXT1):c.963-13C>T	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 3002109	NM_000127.3(EXT1):c.157C>A (p.His53Asn)	EXT1 (H53N)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 3001504	NM_000127.3(EXT1):c.1296del (p.Asp432fs)	EXT1 (D432fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 2996607	NM_000127.3(EXT1):c.783G>A (p.Lys261=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2995315	NM_000127.3(EXT1):c.1418-7A>G	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2993914	NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)	EXT1 (P477A)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2989611	NM_000127.3(EXT1):c.1633-15T>A	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2986242	NM_000127.3(EXT1):c.1632+16G>A	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2981433	NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)	EXT1 (R270T)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2980414	NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)	EXT1 (K628R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	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 2978193	NM_000127.3(EXT1):c.465C>T (p.Val155=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2971687	NM_000127.3(EXT1):c.963-15C>T	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2966250	NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)	EXT1 (D60E)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2921264	NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)	EXT1 (K218N)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1	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 2917852	NM_000127.3(EXT1):c.1309C>G (p.His437Asp)	EXT1 (H437D)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2914993	NM_000127.3(EXT1):c.1231T>C (p.Leu411=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2914468	NM_000127.3(EXT1):c.1944A>G (p.Gln648=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2910222	NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)	EXT1 (R6P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2907419	NM_000127.3(EXT1):c.774T>A (p.Pro258=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2906001	NM_000127.3(EXT1):c.55del (p.Leu19fs)	EXT1 (L19fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 2905500	NM_000127.3(EXT1):c.1632+10G>A	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2904377	NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)	EXT1 (D291N)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2902392	NM_000127.3(EXT1):c.384C>G (p.Ala128=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2897135	NM_000127.3(EXT1):c.1417+19G>C	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2896883	NM_000127.3(EXT1):c.1165-4A>G	EXT1	Single nucleotide variant (intron variant)	Multiple congenital exostosis	GLikely benign
Select item 2896018	NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)	EXT1 (R440P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2895964	NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)	EXT1 (C510R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2895539	NM_000127.3(EXT1):c.188G>A (p.Arg63His)	EXT1 (R63H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2894347	NM_000127.3(EXT1):c.646C>G (p.Leu216Val)	EXT1 (L216V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2892126	NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)	EXT1	Single nucleotide variant (synonymous 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 2888644	NM_000127.3(EXT1):c.153G>A (p.Pro51=)	EXT1	Single nucleotide variant (synonymous variant)	Multiple congenital exostosis	GLikely benign
Select item 2887250	NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)	EXT1 (E365K)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2886721	NM_000127.3(EXT1):c.240T>C (p.Ile80=)	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 2885261	NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)	EXT1 (F333L)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2884846	NM_000127.3(EXT1):c.472C>G (p.Leu158Val)	EXT1 (L158V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2883814	NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)	EXT1 (N601D)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 2882267	NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)	EXT1 (W364L)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance

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