ClinVar for MedGen (Select 377018) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021875	NM_207122.2(EXT2):c.618C>A (p.Pro206=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 3016391	NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)	EXT2, LOC126861201 (I469T +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3015183	NM_207122.2(EXT2):c.2018+17C>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 3014588	NM_207122.2(EXT2):c.1083A>G (p.Ala361=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 3011519	NM_207122.2(EXT2):c.720G>A (p.Val240=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3005807	NM_207122.2(EXT2):c.1806+16C>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 3004884	NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)	EXT2 (K653R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3004756	NM_207122.2(EXT2):c.1306-8T>C	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 3004433	NM_207122.2(EXT2):c.744-10dup	EXT2	Duplication (intron variant)	Exostoses, multiple, type 2	GBenign
Select item 3000917	NM_207122.2(EXT2):c.536+15T>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2997472	NM_207122.2(EXT2):c.1174-2A>G	EXT2	Single nucleotide variant (splice acceptor variant +1 more)	Exostoses, multiple, type 2	GPathogenic
Select item 2979750	NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)	EXT2 (D416E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2978192	NM_207122.2(EXT2):c.1026T>C (p.Val342=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2969320	NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)	EXT2, LOC126861201 (T467N +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2968731	NM_207122.2(EXT2):c.969A>G (p.Gly323=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2968085	NM_207122.2(EXT2):c.278T>C (p.Val93Ala)	EXT2 (V126A +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2961192	NM_207122.2(EXT2):c.798A>G (p.Arg266=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2960066	NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)	EXT2 (G662A +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2955838	NM_207122.2(EXT2):c.2046A>G (p.Ser682=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2919844	NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)	EXT2 (W253R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2917723	NM_207122.2(EXT2):c.1935+19C>T	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2915223	NM_207122.2(EXT2):c.518C>T (p.Ala173Val)	EXT2 (A173V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2914481	NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)	EXT2, LOC126861201 (R498Q +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2913422	NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)	EXT2, LOC126861201 (V512E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2911221	NM_207122.2(EXT2):c.657G>A (p.Thr219=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2910977	NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)	EXT2 (S347C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2910259	NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)	EXT2 (S323* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 2909780	NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)	EXT2 (G214C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2908601	NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)	EXT2 (I190L +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 2905269	NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)	EXT2 (I137T +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2903279	NM_207122.2(EXT2):c.1173+17T>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2902155	NM_207122.2(EXT2):c.534T>C (p.Ser178=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2901344	NM_207122.2(EXT2):c.1863T>C (p.Asp621=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
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 2897989	NM_207122.2(EXT2):c.12G>A (p.Ser4=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2897010	NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)	EXT2 (L242F +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2893003	NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)	EXT2 (W429S +1 more)	Single nucleotide variant (missense variant +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 2892916	NM_207122.2(EXT2):c.1959G>A (p.Lys653=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2892395	NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)	EXT2, LOC126861201 (P447L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2892124	NM_207122.2(EXT2):c.1936-10C>T	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2891311	NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)	EXT2 (Y600C +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2891061	NM_207122.2(EXT2):c.1752T>G (p.Ser584=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2890503	NM_207122.2(EXT2):c.1935+1G>T	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2888236	NM_207122.2(EXT2):c.955G>A (p.Val319Met)	EXT2 (V352M +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2887005	NM_207122.2(EXT2):c.1353A>G (p.Pro451=)	EXT2, LOC126861201	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 2885845	NM_207122.2(EXT2):c.1449C>T (p.Ser483=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2885069	NM_207122.2(EXT2):c.1662+17_1662+18del	EXT2	Microsatellite (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2884624	NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)	EXT2 (L272F +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2884614	NM_207122.2(EXT2):c.717G>A (p.Glu239=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2884210	NM_207122.2(EXT2):c.417C>T (p.Asp139=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2882699	NM_207122.2(EXT2):c.1008A>G (p.Gln336=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2881859	NM_207122.2(EXT2):c.887T>A (p.Val296Asp)	EXT2 (V329D +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2871532	NM_207122.2(EXT2):c.1860A>G (p.Val620=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2868621	NM_207122.2(EXT2):c.940-14T>G	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2866369	NM_207122.2(EXT2):c.1930del (p.Ile644fs)	EXT2 (I677fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2864119	NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)	EXT2 (E368* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 2861036	NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)	EXT2 (S395F +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2852043	NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)	EXT2 (E401fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2849010	NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)	EXT2, LOC126861201 (P480S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2848220	NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)	EXT2 (R199C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2845851	NM_207122.2(EXT2):c.1306-14C>A	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2844026	NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)	EXT2 (P535R +2 more)	Single nucleotide variant (missense 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 2841929	NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)	EXT2 (W619R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2840263	NM_207122.2(EXT2):c.383_390del (p.Arg128fs)	EXT2 (R128fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2826537	NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)	EXT2 (Y348D +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2825132	NM_207122.2(EXT2):c.561G>C (p.Leu187=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2819818	NM_207122.2(EXT2):c.744-16T>G	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2810195	NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)	EXT2, LOC126861201 (K469N +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2809881	NM_207122.2(EXT2):c.1484del (p.Asn495fs)	EXT2, LOC126861201 (N495fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2809516	NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)	EXT2 (L411del +1 more)	Deletion (inframe_deletion +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 2807200	NM_207122.2(EXT2):c.940-15T>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2804409	NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)	EXT2 (A392D +1 more)	Single nucleotide variant (missense variant +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 2790659	NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)	EXT2 (P567L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2761441	NM_207122.2(EXT2):c.393T>C (p.Asn131=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2759716	NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)	EXT2 (I693fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2755623	NM_207122.2(EXT2):c.1079+13T>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2755558	NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)	EXT2 (L709Q +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2751788	NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)	EXT2 (A392fs +2 more)	Duplication (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2751616	NM_207122.2(EXT2):c.1662+18A>G	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2750860	NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)	EXT2 (Y381* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 2741536	NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)	EXT2 (M602I +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2741014	NM_207122.2(EXT2):c.913G>C (p.Val305Leu)	EXT2 (V305L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2739987	NM_207122.2(EXT2):c.627-18A>G	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2739163	NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)	EXT2 (T122A +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2738301	NM_207122.2(EXT2):c.1128T>C (p.Ile376=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2735580	NM_207122.2(EXT2):c.939+1G>T	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2735579	NM_207122.2(EXT2):c.859del (p.Thr287fs)	EXT2 (T287fs +1 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2735578	NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)	EXT2 (Y259* +1 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GPathogenic
Select item 2735577	NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)	EXT2 (L166R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2732368	NM_207122.2(EXT2):c.1221C>G (p.Ala407=)	EXT2	Single nucleotide variant (synonymous variant +1 more)	Exostoses, multiple, type 2	GLikely benign
Select item 2730449	NM_207122.2(EXT2):c.1524A>T (p.Pro508=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2729175	NM_207122.2(EXT2):c.1626T>A (p.Ile542=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2729067	NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)	EXT2 (D317N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2728258	NM_207122.2(EXT2):c.2019-2A>G	EXT2	Single nucleotide variant (splice acceptor variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2727961	NM_207122.2(EXT2):c.1663-14G>A	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2726268	NM_207122.2(EXT2):c.519G>A (p.Ala173=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2725403	NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)	EXT2 (L254F +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance

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