5913[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 304964	NM_005055.4(RAPSN):c.*216A>G	RAPSN	Single nucleotide variant	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 304965	NM_005055.5(RAPSN):c.*211G>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 304966	NM_005055.5(RAPSN):c.*207C>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +2 more	GBenign/Likely benign
Select item 304967	NM_005055.5(RAPSN):c.*80G>C	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 304968	NM_005055.5(RAPSN):c.*57C>T	RAPSN	Single nucleotide variant (3 prime UTR variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 542739	NC_000011.10:g.(?_47437955)_(47438951_?)del	RAPSN	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 304969	NM_005055.5(RAPSN):c.*16G>A	RAPSN	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1911187	NM_005055.5(RAPSN):c.1236A>G (p.Val412=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 990458	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	RAPSN (M348I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 2938648	NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1401252	NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)	RAPSN (S347T +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 877631	NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 1912214	NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)	RAPSN (R404C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 990459	NM_005055.5(RAPSN):c.1208G>A (p.Arg403His)	RAPSN (R344H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 2678226	NM_005055.5(RAPSN):c.1207del (p.Arg403fs)	RAPSN (R344fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 1429976	NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)	RAPSN (R344C +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 285425	NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	RAPSN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1619557	NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 771638	NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	RAPSN (R338Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2927667	NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 476118	NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)	RAPSN (R397W +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2938755	NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1458342	NM_005055.5(RAPSN):c.1185del (p.Thr396fs)	RAPSN (T396fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2435364	NM_005055.5(RAPSN):c.1183G>C (p.Gly395Arg)	RAPSN (G336R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2157863	NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)	RAPSN (G336W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 969203	NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)	RAPSN (G395R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1091698	NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 476117	NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)	RAPSN (N394S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 659635	NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)	RAPSN (N394H +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 545747	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	RAPSN (N393fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic
Select item 1117602	NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2678234	NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)	RAPSN (Q333* +1 more)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2150483	NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1099881	NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2077373	NM_005055.5(RAPSN):c.1168del (p.Cys390fs)	RAPSN (C331fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2176557	NM_005055.5(RAPSN):c.1167-8C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2001569	NM_005055.5(RAPSN):c.1167-9C>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2936378	NM_005055.5(RAPSN):c.1167-12T>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1642060	NM_005055.5(RAPSN):c.1167-17G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2928507	NM_005055.5(RAPSN):c.1167-20A>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 3039196	NM_005055.5(RAPSN):c.1167-36C>A	RAPSN	Single nucleotide variant (intron variant)	RAPSN-related condition	GLikely benign
Select item 684034	NM_005055.5(RAPSN):c.1166+278A>G	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669109	NM_005055.5(RAPSN):c.1166+185G>A	RAPSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2924114	NM_005055.5(RAPSN):c.1166+19dup	RAPSN	Duplication (intron variant)	Congenital myasthenic syndrome 11 +1 more	GBenign
Select item 2930553	NM_005055.5(RAPSN):c.1166+19G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1567030	NM_005055.5(RAPSN):c.1166+19del	RAPSN	Deletion (intron variant)	Congenital myasthenic syndrome 11 +1 more	GBenign
Select item 2930131	NM_005055.5(RAPSN):c.1166+18G>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1586200	NM_005055.5(RAPSN):c.1166+18G>A	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1919187	NM_005055.5(RAPSN):c.1166+17G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2922407	NM_005055.5(RAPSN):c.1166+16G>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1622909	NM_005055.5(RAPSN):c.1166+16G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2047811	NM_005055.5(RAPSN):c.1166+15G>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1552179	NM_005055.5(RAPSN):c.1166+15G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1463338	NM_005055.5(RAPSN):c.1166+15G>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953820	NM_005055.5(RAPSN):c.1166+14G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2063013	NM_005055.5(RAPSN):c.1166+14G>C	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2933791	NM_005055.5(RAPSN):c.1166+13G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2044383	NM_005055.5(RAPSN):c.1166+13G>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1602986	NM_005055.5(RAPSN):c.1166+13G>C	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2933973	NM_005055.5(RAPSN):c.1166+10C>G	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2155746	NM_005055.5(RAPSN):c.1166+10C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2196998	NM_005055.5(RAPSN):c.1166+7G>A	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1552829	NM_005055.5(RAPSN):c.1166+7G>T	RAPSN	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2163124	NM_005055.5(RAPSN):c.1166+2T>G	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2420574	NM_005055.5(RAPSN):c.1166+1G>T	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2152107	NM_005055.5(RAPSN):c.1166+1G>C	RAPSN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 2080215	NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 2921955	NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1672436	NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2129815	NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)	RAPSN (H325Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1591364	NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 661876	NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)	RAPSN (S324C +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 978660	NM_005055.5(RAPSN):c.1146C>A (p.Cys382Ter)	RAPSN (C323* +1 more)	Single nucleotide variant (nonsense)	Hydrops fetalis	GPathogenic
Select item 2678229	NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)	RAPSN (C323fs +1 more)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 130089	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 1928241	NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2937701	NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 2085697	NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1092118	NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1149317	NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2163030	NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)	RAPSN (R376L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 574114	NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)	RAPSN (R376Q +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 542735	NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)	RAPSN (R376W +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 847394	NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	RAPSN (K314del +1 more)	Microsatellite (inframe_deletion)	RAPSN-related condition +4 more	GPathogenic
Select item 476116	NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1113343	NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1439494	NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)	RAPSN (E313G +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 2194358	NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)	RAPSN (E313K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 990460	NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1442840	NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)	RAPSN (E309K +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 878641	NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser)	RAPSN (G308S +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 259624	NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +2 more	GLikely benign
Select item 843800	NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1428667	NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)	RAPSN (G364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1623242	NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)	RAPSN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 11 +1 more	GLikely benign
Select item 1091691	NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign

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