C1802395[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 913389	NM_006306.4(SMC1A):c.*5946C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368542	NM_006306.4(SMC1A):c.*5915T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913390	NM_006306.4(SMC1A):c.*5855G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913391	NM_006306.4(SMC1A):c.*5853A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913392	NM_006306.4(SMC1A):c.*5722A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368543	NM_006306.4(SMC1A):c.*5692G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913393	NM_006306.4(SMC1A):c.*5506A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 914504	NM_006306.4(SMC1A):c.*5489G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368544	NM_006306.4(SMC1A):c.*5481G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 914505	NM_006306.4(SMC1A):c.*5451A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368545	NM_006306.4(SMC1A):c.*5444G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 914506	NM_006306.4(SMC1A):c.*5443C>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368547	NM_006306.4(SMC1A):c.*5355G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368548	NM_006306.4(SMC1A):c.*5352C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 915024	NM_006306.4(SMC1A):c.*5251G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368549	NM_006306.4(SMC1A):c.*5197T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 915025	NM_006306.4(SMC1A):c.*5051G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368550	NM_006306.4(SMC1A):c.*5016T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 915026	NM_006306.4(SMC1A):c.*4998T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 915027	NM_006306.4(SMC1A):c.*4887T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368553	NM_006306.4(SMC1A):c.*4581T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368554	NM_006306.4(SMC1A):c.*4443G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368555	NM_006306.4(SMC1A):c.*4382A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913066	NM_006306.4(SMC1A):c.*4367T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 913067	NM_006306.4(SMC1A):c.*4156A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368556	NM_006306.4(SMC1A):c.*4087G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368557	NM_006306.4(SMC1A):c.*3851A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368559	NM_006306.4(SMC1A):c.*3807G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368560	NM_006306.4(SMC1A):c.*3777C>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368561	NM_006306.4(SMC1A):c.*3671C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913427	NM_006306.4(SMC1A):c.*3596C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913428	NM_006306.4(SMC1A):c.*3484G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368562	NM_006306.4(SMC1A):c.*3421G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 914543	NM_006306.4(SMC1A):c.*3392T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368563	NM_006306.4(SMC1A):c.*3305A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 914544	NM_006306.4(SMC1A):c.*3087G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely benign
Select item 914545	NM_006306.4(SMC1A):c.*3025C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368565	NM_006306.4(SMC1A):c.*2948G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914546	NM_006306.4(SMC1A):c.*2936C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368566	NM_006306.4(SMC1A):c.*2856A>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368567	NM_006306.4(SMC1A):c.*2663C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368568	NM_006306.4(SMC1A):c.*2609A>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368571	NM_006306.4(SMC1A):c.*2490T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368572	NM_006306.4(SMC1A):c.*2435T>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368573	NM_006306.4(SMC1A):c.*2423G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 912344	NM_006306.4(SMC1A):c.*2389G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368574	NM_006306.4(SMC1A):c.*2225G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 912345	NM_006306.4(SMC1A):c.*2086T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368575	NM_006306.4(SMC1A):c.*2050T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 912346	NM_006306.4(SMC1A):c.*1967C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368576	NM_006306.4(SMC1A):c.*1961C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913477	NM_006306.4(SMC1A):c.*1934T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913478	NM_006306.4(SMC1A):c.*1914A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368577	NM_006306.4(SMC1A):c.*1559G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913479	NM_006306.4(SMC1A):c.*1542T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368578	NM_006306.4(SMC1A):c.*1240A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368579	NM_006306.4(SMC1A):c.*1239T>C	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 913480	NM_006306.4(SMC1A):c.*1040G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368580	NM_006306.4(SMC1A):c.*1028C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913856	NM_006306.4(SMC1A):c.*931A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GBenign
Select item 368582	NM_006306.4(SMC1A):c.*703G>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913857	NM_006306.4(SMC1A):c.*675A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368583	NM_006306.4(SMC1A):c.*665A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368584	NM_006306.4(SMC1A):c.*626A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913858	NM_006306.4(SMC1A):c.*578C>T	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 913859	NM_006306.4(SMC1A):c.*488A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368585	NM_006306.4(SMC1A):c.*381A>G	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 368588	NM_006306.4(SMC1A):c.*41G>A	SMC1A	Single nucleotide variant (3 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 95366	NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)	SMC1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 915105	NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 989352	NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)	SMC1A (R1099H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912400	NM_006306.4(SMC1A):c.3131-13T>G	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 912401	NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 95365	NM_006306.4(SMC1A):c.2197-5T>C	SMC1A	Single nucleotide variant (intron variant)	De Lange syndrome +4 more	GBenign/Likely benign
Select item 912402	NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 989381	NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)	SMC1A (S631F +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 912403	NM_006306.4(SMC1A):c.1917G>A (p.Val639=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GConflicting classifications of pathogenicity
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 489224	NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)	SMC1A (R477* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 912404	NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)	SMC1A	Single nucleotide variant (synonymous variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 159939	NM_006306.4(SMC1A):c.1254+11G>C	SMC1A	Single nucleotide variant (intron variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity
Select item 368589	NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	SMC1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 989382	NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)	SMC1A (D230E +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 95367	NM_006306.4(SMC1A):c.412-10C>T	SMC1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 913520	NM_006306.4(SMC1A):c.-7G>A	SMC1A	Single nucleotide variant (5 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance
Select item 95364	NM_006306.4(SMC1A):c.-19C>T	SMC1A	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign
Select item 913521	NM_001281463.1(SMC1A):c.-275G>T	SMC1A	Single nucleotide variant (5 prime UTR variant)	Congenital muscular hypertrophy-cerebral syndrome	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88