"GeneDx"[submitter] AND "LOC126859913"[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 1268928	NM_005618.4(DLL1):c.*194C>T	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1254894	NM_005618.4(DLL1):c.*184C>T	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1267364	NM_005618.4(DLL1):c.*39A>C	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232797	NM_005618.4(DLL1):c.2167-42T>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269335	NM_005618.4(DLL1):c.2167-53G>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712643	NM_005618.4(DLL1):c.2076G>A (p.Pro692=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2504541	NM_005618.4(DLL1):c.2066_2069del (p.Arg689fs)	DLL1, LOC126859913 (R689fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1272949	NM_005618.4(DLL1):c.2048+26G>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237493	NM_005618.4(DLL1):c.2048+11C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305879	NM_005618.4(DLL1):c.2048+2T>C	DLL1, LOC126859913	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 985068	NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)	DLL1, LOC126859913 (R682fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1704851	NM_005618.4(DLL1):c.2008T>C (p.Ser670Pro)	DLL1, LOC126859913 (S670P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217947	NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)	DLL1, LOC126859913 (R661C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1806673	NM_005618.4(DLL1):c.1968C>G (p.Asp656Glu)	DLL1, LOC126859913 (D656E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364479	NM_005618.4(DLL1):c.1952A>T (p.Asp651Val)	DLL1, LOC126859913 (D651V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance