DLL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 672988	NM_016941.3(DLL3):c.-195C>A	DLL3	Single nucleotide variant	not provided	GBenign
Select item 1199598	NC_000019.10:g.39498870G>A	DLL3	Single nucleotide variant	not provided	GLikely benign
Select item 329230	NM_203486.3(DLL3):c.-12dup	DLL3	Duplication (5 prime UTR variant)	Spondylocostal dysostosis +1 more	GUncertain significance
Select item 1498227	NM_203486.3(DLL3):c.4G>T (p.Val2Phe)	DLL3 (V2F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974997	NM_203486.3(DLL3):c.9C>G (p.Ser3=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992159	NM_203486.3(DLL3):c.15G>A (p.Arg5=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799270	NM_203486.3(DLL3):c.24G>C (p.Gly8=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775467	NM_203486.3(DLL3):c.24G>T (p.Gly8=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082923	NM_203486.3(DLL3):c.31T>C (p.Ser11Pro)	DLL3 (S11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 593380	NM_203486.3(DLL3):c.63C>T (p.Leu21=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 591956	NM_203486.3(DLL3):c.67del (p.Gln23fs)	DLL3 (Q23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2791452	NM_203486.3(DLL3):c.66C>T (p.Pro22=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992866	NM_203486.3(DLL3):c.70-8C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116625	NM_203486.3(DLL3):c.70-7G>A	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989643	NM_203486.3(DLL3):c.70-5C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890041	NM_203486.3(DLL3):c.70-4C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2835926	NM_203486.3(DLL3):c.73C>A (p.Arg25=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072607	NM_203486.3(DLL3):c.75G>A (p.Arg25=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1009435	NM_203486.3(DLL3):c.83G>C (p.Gly28Ala)	DLL3 (G28A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696613	NM_203486.3(DLL3):c.96G>A (p.Leu32=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893094	NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)	DLL3 (I34F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2711554	NM_203486.3(DLL3):c.102C>T (p.Ile34=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949842	NM_203486.3(DLL3):c.108T>C (p.Ser36=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986928	NM_203486.3(DLL3):c.114G>T (p.Gly38=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806432	NM_203486.3(DLL3):c.117G>A (p.Pro39=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517070	NM_203486.3(DLL3):c.119G>A (p.Gly40Asp)	DLL3 (G40D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721979	NM_203486.3(DLL3):c.132G>C (p.Gly44=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876771	NM_203486.3(DLL3):c.135C>T (p.Ala45=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994133	NM_203486.3(DLL3):c.138G>A (p.Pro46=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2776086	NM_203486.3(DLL3):c.141G>A (p.Arg47=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 260775	NM_203486.3(DLL3):c.153C>T (p.Ser51=)	DLL3	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3013138	NM_203486.3(DLL3):c.157C>A (p.Arg53=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786670	NM_203486.3(DLL3):c.160C>A (p.Leu54Ile)	DLL3 (L54I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2760468	NM_203486.3(DLL3):c.165C>A (p.Pro55=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985496	NM_203486.3(DLL3):c.169C>A (p.Arg57Ser)	DLL3 (R57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942119	NM_203486.3(DLL3):c.169C>G (p.Arg57Gly)	DLL3 (R57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959420	NM_203486.3(DLL3):c.181A>G (p.Arg61Gly)	DLL3 (R61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3272316	NM_203486.3(DLL3):c.184G>T (p.Val62Phe)	DLL3 (V62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3004547	NM_203486.3(DLL3):c.189C>T (p.Cys63=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066776	NM_203486.3(DLL3):c.190C>G (p.Leu64Val)	DLL3 (L64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701337	NM_203486.3(DLL3):c.201del (p.Leu68fs)	DLL3 (L68fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2919568	NM_203486.3(DLL3):c.211G>T (p.Glu71Ter)	DLL3 (E71*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2835288	NM_203486.3(DLL3):c.219C>T (p.Ala73=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811272	NM_203486.3(DLL3):c.221A>C (p.Glu74Ala)	DLL3 (E74A)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive	GUncertain significance
Select item 1984557	NM_203486.3(DLL3):c.225C>T (p.Ser75=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818902	NM_203486.3(DLL3):c.228G>A (p.Pro76=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547616	NM_203486.3(DLL3):c.231C>T (p.Cys77=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729937	NM_203486.3(DLL3):c.234C>T (p.Ala78=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752802	NM_203486.3(DLL3):c.240C>T (p.Gly80=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540404	NM_203486.3(DLL3):c.241G>A (p.Ala81Thr)	DLL3 (A81T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2990028	NM_203486.3(DLL3):c.246G>C (p.Ala82=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907613	NM_203486.3(DLL3):c.246G>T (p.Ala82=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972439	NM_203486.3(DLL3):c.254C>A (p.Ala85Glu)	DLL3 (A85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908206	NM_203486.3(DLL3):c.264G>A (p.Pro88=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837140	NM_203486.3(DLL3):c.264G>C (p.Pro88=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933909	NM_203486.3(DLL3):c.272C>T (p.Thr91Ile)	DLL3 (T91I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959072	NM_203486.3(DLL3):c.273C>T (p.Thr91=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861518	NM_203486.3(DLL3):c.273C>G (p.Thr91=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722295	NM_203486.3(DLL3):c.273C>A (p.Thr91=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911684	NM_203486.3(DLL3):c.274G>A (p.Glu92Lys)	DLL3 (E92K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903708	NM_203486.3(DLL3):c.281C>T (p.Pro94Leu)	DLL3 (P94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879804	NM_203486.3(DLL3):c.282C>T (p.Pro94=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709459	NM_203486.3(DLL3):c.282C>G (p.Pro94=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483838	NM_203486.3(DLL3):c.286G>A (p.Ala96Thr)	DLL3 (A96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421895	NM_203486.3(DLL3):c.287C>A (p.Ala96Glu)	DLL3 (A96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070056	NM_203486.3(DLL3):c.291C>G (p.Pro97=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614633	NM_203486.3(DLL3):c.291C>T (p.Pro97=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981410	NM_203486.3(DLL3):c.301C>G (p.Leu101Val)	DLL3 (L101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835791	NM_203486.3(DLL3):c.303C>T (p.Leu101=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029986	NM_203486.3(DLL3):c.306A>T (p.Pro102=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906830	NM_203486.3(DLL3):c.307C>T (p.Leu103=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 392716	NM_203486.3(DLL3):c.309G>A (p.Leu103=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2811402	NM_203486.3(DLL3):c.312C>G (p.Pro104=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802996	NM_203486.3(DLL3):c.315C>T (p.Asp105=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370776	NM_203486.3(DLL3):c.316G>A (p.Gly106Ser)	DLL3 (G106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2281829	NM_203486.3(DLL3):c.319C>T (p.Leu107Phe)	DLL3 (L107F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2958779	NM_203486.3(DLL3):c.325C>T (p.Gln109Ter)	DLL3 (Q109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2130248	NM_203486.3(DLL3):c.338G>C (p.Arg113Pro)	DLL3 (R113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724020	NM_203486.3(DLL3):c.342C>T (p.Asp114=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893300	NM_203486.3(DLL3):c.343G>A (p.Ala115Thr)	DLL3 (A115T)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 2324523	NM_203486.3(DLL3):c.344C>T (p.Ala115Val)	DLL3 (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2709025	NM_203486.3(DLL3):c.347G>A (p.Trp116Ter)	DLL3 (W116*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1364330	NM_203486.3(DLL3):c.351T>C (p.Pro117=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2789049	NM_203486.3(DLL3):c.351+11C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781251	NM_203486.3(DLL3):c.351+12C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856076	NM_203486.3(DLL3):c.351+13C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792785	NM_203486.3(DLL3):c.351+16G>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600784	NM_203486.3(DLL3):c.351+17G>C	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2871457	NM_203486.3(DLL3):c.351+20G>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238561	NM_203486.3(DLL3):c.351+132G>C	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245600	NM_203486.3(DLL3):c.352-260G>A	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237871	NM_203486.3(DLL3):c.352-232G>A	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250483	NM_203486.3(DLL3):c.352-183dup	DLL3	Duplication (intron variant)	not provided	GBenign
Select item 1241060	NM_203486.3(DLL3):c.352-183del	DLL3	Deletion (intron variant)	not provided	GBenign
Select item 1261527	NM_203486.3(DLL3):c.352-192C>A	DLL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201340	NM_203486.3(DLL3):c.352-189C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187180	NM_203486.3(DLL3):c.352-188C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212346	NM_203486.3(DLL3):c.352-187C>A	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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