"GeneDx"[submitter] AND "LOC130066788"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	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 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 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 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 2428833	NM_000100.4(CSTB):c.40G>T (p.Ala14Ser)	CSTB, LOC130066788 (A14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1179990	NM_000100.4(CSTB):c.36C>T (p.Ala12=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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)	Progressive myoclonic epilepsy +4 more	GBenign/Likely benign
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 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 205324	NM_000100.4(CSTB):c.-13C>G	CSTB, LOC130066788	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 208407	NM_000100.2(CSTB):c.-36_-24delGAGTCCCCTCGCC	CSTB, LOC130066788	Deletion	not specified	GBenign
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 671988	NM_000100.2(CSTB):c.-48_-36delCGTCCCCTCGCCG	CSTB, LOC130066788	Deletion	not provided	GLikely benign
Select item 340122	NM_000100.3(CSTB):c.-42C>T	CSTB, LOC130066788	Single nucleotide variant	Unverricht-Lundborg syndrome +1 more	GConflicting classifications of pathogenicity
Select item 384017	NM_000100.3(CSTB):c.-47G>T	CSTB, LOC130066788	Single nucleotide variant	not specified	GLikely benign
Select item 385562	NM_000100.3(CSTB):c.-50C>G	CSTB, LOC130066788	Single nucleotide variant	not specified	GLikely benign
Select item 381777	NM_000100.3(CSTB):c.-50C>T	LOC130066788, CSTB	Single nucleotide variant	not specified	GLikely benign
Select item 340124	NM_000100.3(CSTB):c.-54C>T	CSTB, LOC130066788	Single nucleotide variant	Unverricht-Lundborg syndrome +1 more	GBenign
Select item 1174239	NC_000021.9:g.43776393T>C	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign
Select item 1245387	NC_000021.9:g.43776444CGCGGGGCGGGG[2]	CSTB, LOC109029533 +1 more	Microsatellite	not provided	GBenign
Select item 1175423	NC_000021.9:g.43776481A>G	CSTB, LOC130066788	Single nucleotide variant	not provided	GBenign
Select item 1218718	NC_000021.9:g.43776491C>T	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign
Select item 1187020	NC_000021.9:g.43776507G>A	CSTB, LOC130066788	Single nucleotide variant	not provided	GLikely benign

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Items: 28