ClinVar for Gene (Select 28514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366304	NM_005618.4(DLL1):c.1480del (p.Ala494fs)	DLL1 (A494fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 3364479	NM_005618.4(DLL1):c.1952A>T (p.Asp651Val)	DLL1, LOC126859913 (D651V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3364154	NM_005618.4(DLL1):c.1189T>A (p.Tyr397Asn)	DLL1 (Y397N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361548	NM_005618.4(DLL1):c.577C>T (p.Arg193Cys)	DLL1 (R193C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359007	NM_005618.4(DLL1):c.552C>G (p.Tyr184Ter)	DLL1 (Y184*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 3350938	NM_005618.4(DLL1):c.1031C>T (p.Thr344Met)	DLL1 (T344M)	Single nucleotide variant (missense variant)	DLL1-related disorder	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 3272313	NM_005618.4(DLL1):c.1922A>G (p.Tyr641Cys)	DLL1 (Y641C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272312	NM_005618.4(DLL1):c.1877G>A (p.Ser626Asn)	DLL1 (S626N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272311	NM_005618.4(DLL1):c.110G>C (p.Gly37Ala)	DLL1 (G37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257206	NM_005618.4(DLL1):c.552C>T (p.Tyr184=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254980	NM_005618.4(DLL1):c.1077C>G (p.Tyr359Ter)	DLL1 (Y359*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 3254562	NM_005618.4(DLL1):c.611G>A (p.Cys204Tyr)	DLL1 (C204Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
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 3252535	NM_005618.4(DLL1):c.217C>G (p.Pro73Ala)	DLL1 (P73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250636	NM_005618.4(DLL1):c.1762G>T (p.Glu588Ter)	DLL1 (E588*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3246193	NC_000006.11:g.(?_170589990)_(170599227_?)dup	DLL1	Duplication	not provided	GUncertain significance
Select item 3246192	NC_000006.11:g.(?_170589990)_(170599227_?)del	DLL1	Deletion	not provided	GPathogenic
Select item 3236650	NM_005618.4(DLL1):c.76G>A (p.Glu26Lys)	DLL1 (E26K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 3233791	NM_005618.4(DLL1):c.-17G>A	DLL1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3082915	NM_005618.4(DLL1):c.985A>G (p.Ile329Val)	DLL1 (I329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082914	NM_005618.4(DLL1):c.807G>C (p.Gln269His)	DLL1 (Q269H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082913	NM_005618.4(DLL1):c.632T>C (p.Val211Ala)	DLL1 (V211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082912	NM_005618.4(DLL1):c.588C>G (p.Asp196Glu)	DLL1 (D196E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082911	NM_005618.4(DLL1):c.52C>G (p.Gln18Glu)	DLL1 (Q18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082910	NM_005618.4(DLL1):c.461C>G (p.Thr154Arg)	DLL1 (T154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082908	NM_005618.4(DLL1):c.2150G>A (p.Cys717Tyr)	DLL1, LOC126859913 (C717Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3082906	NM_005618.4(DLL1):c.1624C>A (p.Pro542Thr)	DLL1 (P542T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082905	NM_005618.4(DLL1):c.1117G>A (p.Gly373Ser)	DLL1 (G373S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068130	NM_005618.4(DLL1):c.73T>C (p.Phe25Leu)	DLL1 (F25L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 3065912	NM_005618.4(DLL1):c.1492G>A (p.Glu498Lys)	DLL1 (E498K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062904	GRCh37/hg19 6q27(chr6:170158867-170919482)x1	DLL1, ERMARD +4 more	Copy number loss	not specified	GLikely pathogenic
Select item 3061916	NM_005618.4(DLL1):c.1250-8_1250-1del	DLL1	Deletion (splice acceptor variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 3058665	NM_005618.4(DLL1):c.975C>A (p.Cys325Ter)	DLL1 (C325*)	Single nucleotide variant (nonsense)	DLL1-related disorder	GLikely pathogenic
Select item 3051756	NM_005618.4(DLL1):c.-9C>A	DLL1	Single nucleotide variant (5 prime UTR variant)	DLL1-related disorder	GLikely benign
Select item 3043889	NM_005618.4(DLL1):c.1494G>A (p.Glu498=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3040225	NM_005618.4(DLL1):c.1356C>T (p.Cys452=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3036909	NM_005618.4(DLL1):c.1107C>T (p.Thr369=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3033045	NM_005618.4(DLL1):c.285C>T (p.Pro95=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3031554	NM_005618.4(DLL1):c.2001C>G (p.Pro667=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3029635	NM_005618.4(DLL1):c.1249+9G>A	DLL1	Single nucleotide variant (intron variant)	DLL1-related disorder	GLikely benign
Select item 3028944	NM_005618.4(DLL1):c.2006G>C (p.Gly669Ala)	DLL1, LOC126859913 (G669A)	Single nucleotide variant (missense variant)	DLL1-related disorder	GUncertain significance
Select item 3026496	NM_005618.4(DLL1):c.400G>A (p.Asp134Asn)	DLL1 (D134N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 3021610	NM_005618.4(DLL1):c.1235C>T (p.Ser412Leu)	DLL1 (S412L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021346	NM_005618.4(DLL1):c.1324G>A (p.Asp442Asn)	DLL1 (D442N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020910	NM_005618.4(DLL1):c.1156G>A (p.Asp386Asn)	DLL1 (D386N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016728	NM_005618.4(DLL1):c.1270G>A (p.Gly424Ser)	DLL1 (G424S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011777	NM_005618.4(DLL1):c.1751G>C (p.Arg584Pro)	DLL1 (R584P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010816	NM_005618.4(DLL1):c.1873_1882delinsA (p.His625_Asp628delinsAsn)	DLL1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3005308	NM_005618.4(DLL1):c.39G>A (p.Ser13=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002817	NM_005618.4(DLL1):c.1167C>T (p.Tyr389=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001663	NM_005618.4(DLL1):c.2044A>G (p.Arg682Gly)	DLL1, LOC126859913 (R682G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999682	NM_005618.4(DLL1):c.412+18del	DLL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2998704	NM_005618.4(DLL1):c.351+7G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998531	NM_005618.4(DLL1):c.1249+11A>C	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992851	NM_005618.4(DLL1):c.395C>T (p.Pro132Leu)	DLL1 (P132L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992632	NM_005618.4(DLL1):c.2051G>C (p.Gly684Ala)	DLL1, LOC126859913 (G684A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992196	NM_005618.4(DLL1):c.1162G>A (p.Gly388Arg)	DLL1 (G388R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989418	NM_005618.4(DLL1):c.1033-7C>T	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983226	NM_005618.4(DLL1):c.1132G>A (p.Gly378Arg)	DLL1 (G378R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977601	NM_005618.4(DLL1):c.1250-4C>T	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976620	NM_005618.4(DLL1):c.1913C>T (p.Ala638Val)	DLL1 (A638V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975642	NM_005618.4(DLL1):c.85C>T (p.Leu29=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975316	NM_005618.4(DLL1):c.691G>A (p.Asp231Asn)	DLL1 (D231N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973048	NM_005618.4(DLL1):c.975C>T (p.Cys325=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971151	NM_005618.4(DLL1):c.1834A>G (p.Ile612Val)	DLL1 (I612V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970667	NM_005618.4(DLL1):c.1389C>T (p.Asn463=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969612	NM_005618.4(DLL1):c.2034G>A (p.Pro678=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967771	NM_005618.4(DLL1):c.674T>C (p.Ile225Thr)	DLL1 (I225T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964229	NM_005618.4(DLL1):c.1353G>A (p.Pro451=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961718	NM_005618.4(DLL1):c.243C>T (p.Ser81=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959949	NM_005618.4(DLL1):c.468C>T (p.Gly156=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959405	NM_005618.4(DLL1):c.1659C>T (p.Ile553=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955148	NM_005618.4(DLL1):c.2049-16T>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954711	NM_005618.4(DLL1):c.670+8T>G	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910582	NM_005618.4(DLL1):c.918C>T (p.Asn306=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910206	NM_005618.4(DLL1):c.766G>A (p.Glu256Lys)	DLL1 (E256K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909880	NM_005618.4(DLL1):c.949C>T (p.Arg317Trp)	DLL1 (R317W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907626	NM_005618.4(DLL1):c.2076G>T (p.Pro692=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906911	NM_005618.4(DLL1):c.103A>C (p.Lys35Gln)	DLL1 (K35Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905433	NM_005618.4(DLL1):c.765C>T (p.Asp255=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902957	NM_005618.4(DLL1):c.1584G>A (p.Ala528=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896085	NM_005618.4(DLL1):c.607A>G (p.Thr203Ala)	DLL1 (T203A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894431	NM_005618.4(DLL1):c.1705G>A (p.Val569Ile)	DLL1 (V569I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891488	NM_005618.4(DLL1):c.1353G>T (p.Pro451=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891310	NM_005618.4(DLL1):c.587A>G (p.Asp196Gly)	DLL1 (D196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887739	NM_005618.4(DLL1):c.1969G>A (p.Ala657Thr)	DLL1, LOC126859913 (A657T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2885191	NM_005618.4(DLL1):c.2148G>C (p.Glu716Asp)	DLL1, LOC126859913 (E716D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2883133	NM_005618.4(DLL1):c.1113G>A (p.Ala371=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882727	NM_005618.4(DLL1):c.343A>T (p.Thr115Ser)	DLL1 (T115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882467	NM_005618.4(DLL1):c.36C>G (p.Leu12=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878296	NM_005618.4(DLL1):c.1641C>G (p.Ala547=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873885	NM_005618.4(DLL1):c.55-4G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873353	NM_005618.4(DLL1):c.734G>A (p.Cys245Tyr)	DLL1 (C245Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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