"GeneDx"[submitter] AND "DLL1"[gene] - ClinVar

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Items: 85

	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
Select item 3364726	NM_005618.4(DLL1):c.1855G>T (p.Ala619Ser)	DLL1 (A619S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503482	NM_005618.4(DLL1):c.1811_1814del (p.Val604fs)	DLL1 (V604fs)	Microsatellite (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2663282	NM_005618.4(DLL1):c.1791_1793delinsACTGA (p.Arg598fs)	DLL1 (R598fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1328887	NM_005618.4(DLL1):c.1778T>G (p.Leu593Arg)	DLL1 (L593R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315255	NM_005618.4(DLL1):c.1729C>T (p.Arg577Trp)	DLL1 (R577W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3082907	NM_005618.4(DLL1):c.1633T>A (p.Trp545Arg)	DLL1 (W545R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1490397	NM_005618.4(DLL1):c.1597A>G (p.Thr533Ala)	DLL1 (T533A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800562	NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)	DLL1 (R509*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2429479	NM_005618.4(DLL1):c.1491C>A (p.His497Gln)	DLL1 (H497Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580017	NM_005618.4(DLL1):c.1475A>G (p.Asn492Ser)	DLL1 (N492S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277630	NM_005618.4(DLL1):c.1422G>A (p.Thr474=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499305	NM_005618.4(DLL1):c.1397C>T (p.Ser466Phe)	DLL1 (S466F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708567	NM_005618.4(DLL1):c.1366G>A (p.Gly456Ser)	DLL1 (G456S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702546	NM_005618.4(DLL1):c.1300G>T (p.Gly434Cys)	DLL1 (G434C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313407	NM_005618.4(DLL1):c.1267C>G (p.Leu423Val)	DLL1 (L423V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194227	NM_005618.4(DLL1):c.1250-230C>T	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243471	NM_005618.4(DLL1):c.1249+277A>G	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182871	NM_005618.4(DLL1):c.1249+175G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364439	NM_005618.4(DLL1):c.1228A>T (p.Ser410Cys)	DLL1 (S410C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722112	NM_005618.4(DLL1):c.1194C>T (p.Ser398=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3364154	NM_005618.4(DLL1):c.1189T>A (p.Tyr397Asn)	DLL1 (Y397N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501487	NM_005618.4(DLL1):c.1163G>A (p.Gly388Glu)	DLL1 (G388E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430848	NM_005618.4(DLL1):c.1032G>A (p.Thr344=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1708745	NM_005618.4(DLL1):c.965G>T (p.Gly322Val)	DLL1 (G322V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343744	NM_005618.4(DLL1):c.959A>G (p.Tyr320Cys)	DLL1 (Y320C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313317	NM_005618.4(DLL1):c.941G>T (p.Cys314Phe)	DLL1 (C314F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803303	NM_005618.4(DLL1):c.905C>T (p.Ala302Val)	DLL1 (A302V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253227	NM_005618.4(DLL1):c.889C>T (p.Pro297Ser)	DLL1 (P297S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806596	NM_005618.4(DLL1):c.860A>G (p.Gln287Arg)	DLL1 (Q287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098334	NM_005618.4(DLL1):c.845dup (p.Leu283fs)	DLL1 (L283fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2657155	NM_005618.4(DLL1):c.844G>T (p.Gly282Cys)	DLL1 (G282C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294881	NM_005618.4(DLL1):c.830A>G (p.Gln277Arg)	DLL1 (Q277R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2843601	NM_005618.4(DLL1):c.800_823dup (p.Cys274_Asn275insThrCysGlnGlnProTrpGlnCys)	DLL1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2507312	NM_005618.4(DLL1):c.821G>C (p.Cys274Ser)	DLL1 (C274S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372203	NM_005618.4(DLL1):c.797G>A (p.Gly266Asp)	DLL1 (G266D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663423	NM_005618.4(DLL1):c.757T>C (p.Tyr253His)	DLL1 (Y253H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371484	NM_005618.4(DLL1):c.754C>G (p.Arg252Gly)	DLL1 (R252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260857	NM_005618.4(DLL1):c.732-32A>G	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201114	NM_005618.4(DLL1):c.731+206A>C	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3375491	NM_005618.4(DLL1):c.731+3A>G	DLL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1242234	NM_005618.4(DLL1):c.671-44C>G	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325982	NM_005618.4(DLL1):c.671-193_671-191del	DLL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1253770	NM_005618.4(DLL1):c.670+51G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333048	NM_005618.4(DLL1):c.670+30A>G	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265502	NM_005618.4(DLL1):c.670+22G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305008	NM_005618.4(DLL1):c.598G>C (p.Gly200Arg)	DLL1 (G200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801034	NM_005618.4(DLL1):c.583C>T (p.Arg195Trp)	DLL1 (R195W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524108	NM_005618.4(DLL1):c.543_570dup (p.Phe191fs)	DLL1 (F191fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2497932	NM_005618.4(DLL1):c.556G>A (p.Glu186Lys)	DLL1 (E186K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504765	NM_005618.4(DLL1):c.527G>T (p.Arg176Leu)	DLL1 (R176L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499949	NM_005618.4(DLL1):c.526C>T (p.Arg176Cys)	DLL1 (R176C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2497950	NM_005618.4(DLL1):c.479C>G (p.Ser160Cys)	DLL1 (S160C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264502	NM_005618.4(DLL1):c.351+248G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234472	NM_005618.4(DLL1):c.351+223GAG[2]	DLL1	Microsatellite (intron variant)	not provided	GBenign
Select item 3369426	NM_005618.4(DLL1):c.350C>A (p.Pro117Gln)	DLL1 (P117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208106	NM_005618.4(DLL1):c.303C>A (p.Asp101Glu)	DLL1 (D101E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3252535	NM_005618.4(DLL1):c.217C>G (p.Pro73Ala)	DLL1 (P73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581837	NM_005618.4(DLL1):c.204G>C (p.Gln68His)	DLL1 (Q68H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368668	NM_005618.4(DLL1):c.75C>G (p.Phe25Leu)	DLL1 (F25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214195	NM_005618.4(DLL1):c.55-44C>T	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270069	NM_005618.4(DLL1):c.55-128C>G	DLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367805	NM_005618.4(DLL1):c.54+5G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1878702	NM_005618.4(DLL1):c.38C>A (p.Ser13Ter)	DLL1 (S13*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1281907	NM_005618.4(DLL1):c.-158G>A	DLL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1212866	NM_005618.4(DLL1):c.-234C>G	DLL1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 3361548	NM_005618.4(DLL1):c.577C>T (p.Arg193Cys)	DLL1 (R193C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 85