ClinVar for MedGen (Select 1708832) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064823	NM_006306.4(SMC1A):c.109+589_109+590del	SMC1A (Y12fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 3064087	NM_006306.4(SMC1A):c.1301G>A (p.Arg434Gln)	SMC1A (R412Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 3062286	NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)	SMC1A (Y589* +1 more)	Duplication (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3024321	NM_006306.4(SMC1A):c.298+2T>C	SMC1A	Single nucleotide variant (splice donor variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 3024284	NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)	SMC1A (E1018K +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3024232	NM_006306.4(SMC1A):c.2299del (p.Glu767fs)	SMC1A (E745fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 2772432	NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)	SMC1A (S942fs +1 more)	Microsatellite (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 2584984	NM_006306.4(SMC1A):c.595G>A (p.Ala199Thr)	SMC1A (A177T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 2576567	NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)	SMC1A (Q1014* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 1895410	NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)	SMC1A (Q257del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 1704281	NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)	SMC1A (S1020fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 1700232	NM_006306.4(SMC1A):c.2122del (p.Leu708fs)	SMC1A (L686fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 1699303	NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg)	SMC1A (K351R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GUncertain significance
Select item 1691864	NM_006306.4(SMC1A):c.2076del (p.Lys692fs)	SMC1A (K670fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 1632889	NM_006306.4(SMC1A):c.2562+17T>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 1609877	NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1598894	NM_006306.4(SMC1A):c.854+17G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 1597240	NM_006306.4(SMC1A):c.109+13T>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1593221	NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1590961	NM_006306.4(SMC1A):c.3438-18C>T	SMC1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GBenign/Likely benign
Select item 1582927	NM_006306.4(SMC1A):c.1912-14C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 1582009	NM_006306.4(SMC1A):c.1911+12C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GBenign/Likely benign
Select item 1490911	NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser)	SMC1A (N239S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 1406869	NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln)	SMC1A (R446Q +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 1361761	NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser)	SMC1A (N593S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 1343250	NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)	SMC1A (K656del +1 more)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GLikely pathogenic
Select item 1326800	NM_006306.4(SMC1A):c.1545+5G>A	SMC1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 1325813	NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs)	SMC1A (Q337fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 1217963	NM_006306.4(SMC1A):c.298+19A>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GBenign/Likely benign
Select item 1184529	NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter)	SMC1A (Q1039* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 1132678	NM_006306.4(SMC1A):c.951G>A (p.Lys317=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1126103	NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1108486	NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1086400	NM_006306.4(SMC1A):c.429T>C (p.Ile143=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1085983	NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1068642	NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)	SMC1A (R1027* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GPathogenic
Select item 973949	NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)	SMC1A (S426fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 864848	NM_006306.4(SMC1A):c.2394del (p.Lys798fs)	SMC1A (K776fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864847	NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly)	SMC1A (R895G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864846	NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)	SMC1A (Q1039* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864845	NM_006306.4(SMC1A):c.2477del (p.Asn826fs)	SMC1A (N804fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864844	NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter)	SMC1A (E733* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864843	NM_006306.4(SMC1A):c.2364del (p.Asn788fs)	SMC1A (N766fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 864840	NM_006306.4(SMC1A):c.1911+1G>T	SMC1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GPathogenic
Select item 841238	NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)	SMC1A (R496C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 793222	NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)	SMC1A (L102F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 764190	NM_006306.4(SMC1A):c.2059-9T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 760985	NM_006306.4(SMC1A):c.3438-7C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +3 more	GBenign/Likely benign
Select item 757494	NM_006306.4(SMC1A):c.915C>T (p.Thr305=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GLikely benign
Select item 753669	NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)	SMC1A (R658H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 657285	NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)	SMC1A (A143V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 590064	NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)	SMC1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 582909	NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)	SMC1A (Q909R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 523210	NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	MIR6857, SMC1A (R785H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GConflicting classifications of pathogenicity
Select item 522900	NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)	SMC1A (D1134E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 448420	NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GLikely benign
Select item 373969	NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	SMC1A (Q972R +1 more)	Single nucleotide variant (missense variant)	Pectus excavatum +10 more	GUncertain significance
Select item 368589	NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 208627	NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)	SMC1A (I1163fs +1 more)	Duplication (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 208626	NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	SMC1A (S951fs +1 more)	Deletion (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic
Select item 198840	NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)	SMC1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 167707	NM_006306.4(SMC1A):c.699G>A (p.Val233=)	SMC1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +4 more	GBenign/Likely benign
Select item 159963	NM_006306.4(SMC1A):c.616-6G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome +3 more	GBenign/Likely benign
Select item 159957	NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)	SMC1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +4 more	GBenign/Likely benign
Select item 159954	NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	SMC1A (R1049Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 159947	NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	SMC1A (R711W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GPathogenic/Likely pathogenic
Select item 159943	NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)	SMC1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +4 more	GBenign/Likely benign
Select item 95364	NM_006306.4(SMC1A):c.-19C>T	SMC1A	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 68