C0751785[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340114	NM_000100.3(CSTB):c.*435G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340115	NM_000100.3(CSTB):c.*355C>G	CSTB	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896110	NM_000100.3(CSTB):c.*334G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340116	NM_000100.3(CSTB):c.*325A>G	CSTB	Single nucleotide variant	not provided +1 more	GBenign
Select item 897699	NM_000100.3(CSTB):c.*319G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340117	NM_000100.3(CSTB):c.*301G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 897700	NM_000100.3(CSTB):c.*287G>A	CSTB	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340118	NM_000100.4(CSTB):c.*227A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome	GUncertain significance
Select item 897701	NM_000100.4(CSTB):c.*209A>T	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome	GUncertain significance
Select item 897702	NM_000100.4(CSTB):c.*93A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome	GLikely benign
Select item 340119	NM_000100.4(CSTB):c.*74T>C	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome +1 more	GBenign
Select item 340120	NM_000100.4(CSTB):c.*69A>G	CSTB	Single nucleotide variant (3 prime UTR variant)	Unverricht-Lundborg syndrome +1 more	GLikely benign
Select item 8396	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	CSTB (R68*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +10 more	GPathogenic
Select item 205323	NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	CSTB (V65I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 898861	NM_000100.4(CSTB):c.169G>T (p.Val57Leu)	CSTB (V57L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 340121	NM_000100.4(CSTB):c.169-14C>T	CSTB	Single nucleotide variant (intron variant)	Unverricht-Lundborg syndrome	GUncertain significance
Select item 195015	NM_000100.4(CSTB):c.121G>A (p.Val41Met)	CSTB (V41M)	Single nucleotide variant (missense variant)	CSTB-related condition +5 more	GConflicting classifications of pathogenicity
Select item 8395	NM_000100.4(CSTB):c.67-1G>C	CSTB	Single nucleotide variant (splice acceptor variant)	Unverricht-Lundborg syndrome +6 more	GConflicting classifications of pathogenicity
Select item 137037	NM_000100.4(CSTB):c.67-3T>C	CSTB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 382295	NM_000100.4(CSTB):c.45G>A (p.Glu15=)	LOC130066788, CSTB	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 128858	NM_000100.4(CSTB):c.15G>T (p.Ala5=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 895890	NM_000100.4(CSTB):c.9C>T (p.Cys3=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 510088	NM_000100.4(CSTB):c.-12G>A	CSTB, LOC130066788	Single nucleotide variant (5 prime UTR variant)	Unverricht-Lundborg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 340122	NM_000100.3(CSTB):c.-42C>T	CSTB, LOC130066788	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 340123	NM_000100.3(CSTB):c.-43C>G	CSTB, LOC130066788	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance
Select item 340124	NM_000100.3(CSTB):c.-54C>T	CSTB, LOC130066788	Single nucleotide variant	not provided +1 more	GBenign
Select item 340125	NM_000100.3(CSTB):c.-55G>A	CSTB, LOC130066788	Single nucleotide variant	Unverricht-Lundborg syndrome	GUncertain significance

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Items: 27