Related gene-specific medical variations for Gene (Select 1476) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371794	NM_000100.4(CSTB):c.37A>G (p.Thr13Ala)	CSTB, LOC130066788 (T13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879355	NM_000100.4(CSTB):c.66+15G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2751069	NM_000100.4(CSTB):c.66+10C>A	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2428833	NM_000100.4(CSTB):c.40G>T (p.Ala14Ser)	CSTB, LOC130066788 (A14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168137	NM_000100.4(CSTB):c.15G>A (p.Ala5=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2152912	NM_000100.4(CSTB):c.66+3G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2139270	NM_000100.4(CSTB):c.66+14G>A	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2129691	NM_000100.4(CSTB):c.66+11C>T	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1965913	NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)	CSTB, LOC130066788 (A12T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1898278	NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)	CSTB, LOC130066788 (P6L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1652345	NM_000100.4(CSTB):c.42C>G (p.Ala14=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1648069	NM_000100.4(CSTB):c.66+20G>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1472370	NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)	CSTB, LOC130066788 (T9K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1436616	NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)	CSTB, LOC130066788 (C3W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1380284	NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)	CSTB, LOC130066788 (P6A)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1214309	NM_000100.4(CSTB):c.66+169A>T	CSTB, LOC130066788	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179990	NM_000100.4(CSTB):c.36C>T (p.Ala12=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1142711	NM_000100.4(CSTB):c.33G>A (p.Pro11=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1126007	NM_000100.4(CSTB):c.39C>G (p.Thr13=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1036373	NM_000100.4(CSTB):c.21C>A (p.Ser7=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1023817	NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)	CSTB, LOC130066788 (T16I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1009881	NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)	CSTB, LOC130066788 (P11S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 999402	NM_000100.4(CSTB):c.26C>T (p.Thr9Met)	CSTB, LOC130066788 (T9M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
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 809294	NM_000100.4(CSTB):c.43G>T (p.Glu15Ter)	CSTB, LOC130066788 (E15*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 677583	NM_000100.4(CSTB):c.66+108T>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670906	NM_000100.4(CSTB):c.66+89T>C	CSTB, LOC130066788	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 579288	NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)	CSTB, LOC130066788 (Q10E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 575503	NM_000100.4(CSTB):c.55A>G (p.Ile19Val)	CSTB, LOC130066788 (I19V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 575156	NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)	CSTB, LOC130066788 (Q22*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 511262	NM_000100.4(CSTB):c.-30C>T	CSTB, LOC130066788	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 493324	NM_000100.4(CSTB):c.13del (p.Ala5fs)	CSTB, LOC130066788 (A5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 462912	NM_000100.4(CSTB):c.12G>A (p.Gly4=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 431700	NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)	CSTB, LOC130066788 (G4W)	Single nucleotide variant (missense variant)	Unverricht-Lundborg syndrome	GLikely pathogenic
Select item 423466	NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)	CSTB, LOC130066788 (M1fs)	Insertion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 414880	NM_000100.4(CSTB):c.27G>C (p.Thr9=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 382295	NM_000100.4(CSTB):c.45G>A (p.Glu15=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 208407	NM_000100.2(CSTB):c.-36_-24delGAGTCCCCTCGCC	CSTB, LOC130066788	Deletion	not specified	GBenign
Select item 205325	NM_000100.4(CSTB):c.54C>T (p.His18=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 205324	NM_000100.4(CSTB):c.-13C>G	CSTB, LOC130066788	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 193045	NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)	CSTB, LOC130066788 (Q10P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 128858	NM_000100.4(CSTB):c.15G>T (p.Ala5=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome +4 more	GBenign/Likely benign
Select item 55961	NM_000100.4(CSTB):c.66G>A (p.Gln22=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome	GLikely pathogenic
Select item 8397	NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	CSTB, LOC130066788 (G4R)	Single nucleotide variant (missense variant)	Unverricht-Lundborg syndrome	GPathogenic

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Links from Gene

Items: 45