"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SMC1A"[ - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 585

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587912	NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)	SMC1A (N1209S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2087334	NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 766690	NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu)	SMC1A (P1206L +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 718844	NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093228	NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 576172	NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)	SMC1A	Deletion (inframe_deletion)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 463886	NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely benign
Select item 1510427	NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala)	SMC1A (T1221A +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1154410	NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1038681	NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla)	SMC1A	Insertion (inframe_insertion)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2987036	NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)	SMC1A (D1197N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1108452	NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1662248	NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2094007	NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)	SMC1A (D1209N +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1473214	NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1550086	NM_006306.4(SMC1A):c.3619-14C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 1546461	NM_006306.4(SMC1A):c.3619-16C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1110199	NM_006306.4(SMC1A):c.3618+8G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 436819	NM_006306.4(SMC1A):c.3618+7C>T	SMC1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 798608	NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 665368	NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe)	SMC1A (Y1182F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GUncertain significance
Select item 929455	NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)	SMC1A (E1176K +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 463885	NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln)	SMC1A (E1176Q +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1077512	NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 95366	NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1005768	NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1463423	NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val)	SMC1A (I1187V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
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 1670284	NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 915105	NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)	SMC1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1722295	NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)	SMC1A (S1156L +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2779633	NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)	SMC1A (Q1155R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GUncertain significance
Select item 1473013	NM_006306.4(SMC1A):c.3508-2A>G	SMC1A	Single nucleotide variant (splice acceptor variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 2015123	NM_006306.4(SMC1A):c.3508-6C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2176099	NM_006306.4(SMC1A):c.3508-13G>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1986602	NM_006306.4(SMC1A):c.3508-15C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2729785	NM_006306.4(SMC1A):c.3508-18T>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1938004	NM_006306.4(SMC1A):c.3508-20C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 532574	NM_006306.4(SMC1A):c.3507+3G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 520894	NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)	SMC1A (N1144S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1150849	NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 579900	NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)	SMC1A (V1132D +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 854862	NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)	SMC1A (V1154I +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
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 159957	NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +4 more	GBenign/Likely benign
Select item 1197836	NM_006306.4(SMC1A):c.3438-3C>T	SMC1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 2743192	NM_006306.4(SMC1A):c.3438-8C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1570505	NM_006306.4(SMC1A):c.3438-12G>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	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 1546219	NM_006306.4(SMC1A):c.3437+12C>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 793251	NM_006306.4(SMC1A):c.3437+10A>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1503975	NM_006306.4(SMC1A):c.3437+1G>A	SMC1A	Single nucleotide variant (splice donor variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 2864811	NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)	SMC1A (S1124R +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2825150	NM_006306.4(SMC1A):c.3422T>C (p.Leu1141Pro)	SMC1A (L1141P +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 663717	NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1460185	NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)	SMC1A (R1101W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 989352	NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)	SMC1A (R1099H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1068123	NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)	SMC1A (C1093F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 1067065	NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)	SMC1A (C1093Y +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 1553627	NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1464457	NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser)	SMC1A (N1080S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1583563	NM_006306.4(SMC1A):c.3286-4del	SMC1A	Deletion (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 793598	NM_006306.4(SMC1A):c.3286-4C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1609766	NM_006306.4(SMC1A):c.3286-7C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1655260	NM_006306.4(SMC1A):c.3285+4G>A	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2577978	NM_006306.4(SMC1A):c.3283C>T (p.Gln1095Ter)	SMC1A (Q1073* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2739624	NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)	SMC1A (A1094T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1133076	NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2108018	NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)	SMC1A (Y1085* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 159956	NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)	SMC1A (Y1085C +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic/Likely pathogenic
Select item 1036980	NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)	SMC1A (I1084M +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 159955	NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 855426	NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)	SMC1A (I1084fs +1 more)	Duplication (frameshift variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2762680	NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2876796	NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 655285	NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala)	SMC1A (T1057A +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1057501	NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)	SMC1A (S1054F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2893288	NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1055939	NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)	SMC1A (A1050G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2061360	NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)	SMC1A (N1049S +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 1379113	NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly)	SMC1A (R1069G +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 2995351	NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 521979	NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)	SMC1A (R1044H +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic/Likely pathogenic
Select item 208703	NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)	SMC1A (R1044C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 568388	NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)	SMC1A (I1040M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more	GUncertain significance
Select item 384321	NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)	SMC1A (E1038K +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GConflicting classifications of pathogenicity
Select item 757908	NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 1124656	NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 571206	NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)	SMC1A (R1051* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
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 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 2164131	NM_006306.4(SMC1A):c.3131-4del	SMC1A	Deletion (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2164132	NM_006306.4(SMC1A):c.3131-5G>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2000646	NM_006306.4(SMC1A):c.3131-7C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2910872	NM_006306.4(SMC1A):c.3131-15C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2416594	NM_006306.4(SMC1A):c.3131-19C>T	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 2013509	NM_006306.4(SMC1A):c.3130+11C>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 2032565	NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 532569	NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	SMC1A (R1035* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 6