"GeneDx"[submitter] AND "ASCC1"[gene] - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1262551	NM_001198800.3(ASCC1):c.*108T>C	ASCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289137	NM_001198800.3(ASCC1):c.958-4824G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252053	NM_001198800.3(ASCC1):c.871+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1248651	NM_001198800.3(ASCC1):c.626+134C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244079	NM_001198800.3(ASCC1):c.626+101A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 619021	NM_001198800.3(ASCC1):c.626+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1294585	NM_001198800.3(ASCC1):c.490-163T>C	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287832	NM_001198800.3(ASCC1):c.489+16G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 801335	NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)	ASCC1 (R138* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1278741	NM_001198800.3(ASCC1):c.310+126dup	ASCC1	Duplication (intron variant)	not provided	GBenign
Select item 1356810	NM_001198800.3(ASCC1):c.304G>A (p.Glu102Lys)	ASCC1 (E102K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1280934	NM_001198800.3(ASCC1):c.213-722G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221050	NM_001198800.3(ASCC1):c.213-961C>G	ASCC1 (S78*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 1280989	NM_001198800.3(ASCC1):c.212+39C>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290604	NM_001198800.3(ASCC1):c.113-77C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291747	NM_001198800.3(ASCC1):c.113-123C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259747	NM_001198800.3(ASCC1):c.112+235_112+237del	ASCC1	Deletion (intron variant)	not provided	GBenign
Select item 1279546	NM_001198800.3(ASCC1):c.100G>A (p.Asp34Asn)	ASCC1 (D34N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1237289	NM_001198800.3(ASCC1):c.-33-154T>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265288	NM_001198800.3(ASCC1):c.-33-243dup	ASCC1	Duplication (intron variant)	not provided	GBenign
Select item 1273959	NM_001198800.3(ASCC1):c.-33-234del	ASCC1	Deletion (intron variant)	not provided	GBenign
Select item 1289894	NM_001198800.3(ASCC1):c.-33-241G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign

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: 23