ClinVar for MedGen (Select 834049) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065801	NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)	DLL3, LOC130064417 (W158*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 1, autosomal recessive	GLikely pathogenic
Select item 2572236	NM_203486.3(DLL3):c.1272dup (p.Asp425fs)	DLL3, LOC130064418 (D425fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 1, autosomal recessive	GLikely pathogenic
Select item 2572235	NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)	DLL3 (C438S)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive	GLikely pathogenic
Select item 1705307	NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)	DLL3 (H447fs)	Insertion (frameshift variant)	Spondylocostal dysostosis 1, autosomal recessive	GPathogenic
Select item 1634107	NM_203486.3(DLL3):c.915C>T (p.Tyr305=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1390694	NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn)	DLL3 (K352N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332772	NM_203486.3(DLL3):c.871-1G>A	DLL3	Single nucleotide variant (splice acceptor variant)	Spondylocostal dysostosis 1, autosomal recessive	GPathogenic
Select item 1330588	NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe)	DLL3 (Y459F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324231	NM_203486.3(DLL3):c.366_378del (p.Ile123fs)	DLL3 (I123fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 994133	NM_203486.3(DLL3):c.138G>A (p.Pro46=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GLikely benign
Select item 994083	NM_203486.3(DLL3):c.409+6T>C	DLL3	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 993545	NM_203486.3(DLL3):c.409+19G>T	DLL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 894636	NM_203486.3(DLL3):c.1759-97G>T	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 894613	NM_203486.3(DLL3):c.1302C>T (p.Ala434=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 894612	NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg)	DLL3 (G397R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 894587	NM_203486.3(DLL3):c.933G>A (p.Val311=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 894586	NM_203486.3(DLL3):c.902C>T (p.Pro301Leu)	DLL3 (P301L)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 894585	NM_203486.3(DLL3):c.870+3C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +1 more	GUncertain significance
Select item 894550	NM_203486.3(DLL3):c.583A>G (p.Ser195Gly)	DLL3, LOC130064417 (S195G)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 894549	NM_203486.3(DLL3):c.564G>T (p.Thr188=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 894238	NM_203486.3(DLL3):c.1674-9C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 894207	NM_203486.3(DLL3):c.1140C>G (p.Arg380=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 894206	NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys)	DLL3 (R380C)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 894205	NM_203486.3(DLL3):c.1123C>G (p.Leu375Val)	DLL3 (L375V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 894146	NM_203486.3(DLL3):c.478C>T (p.Arg160Trp)	DLL3, LOC130064417 (R160W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GUncertain significance
Select item 893402	NM_203486.3(DLL3):c.1474C>G (p.Leu492Val)	DLL3 (L492V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893401	NM_203486.3(DLL3):c.1455C>T (p.Pro485=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893400	NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala)	DLL3 (P481A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 893379	NM_203486.3(DLL3):c.1101C>T (p.Leu367=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 893343	NM_203486.3(DLL3):c.654G>A (p.Leu218=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 893342	NM_203486.3(DLL3):c.652+15C>T	DLL3, LOC130064417	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893301	NM_203486.3(DLL3):c.367A>G (p.Ile123Val)	DLL3 (I123V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
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 893125	NM_203486.3(DLL3):c.615C>T (p.Arg205=)	LOC130064417, DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 893094	NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)	DLL3 (I34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 892624	NM_203486.3(DLL3):c.*38A>G	DLL3	Single nucleotide variant (3 prime UTR variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GLikely benign
Select item 892623	NM_203486.3(DLL3):c.1759-31C>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 892590	NM_203486.3(DLL3):c.1378A>G (p.Met460Val)	DLL3 (M460V)	Single nucleotide variant (missense variant)	Syndactyly +1 more	GUncertain significance
Select item 892589	NM_203486.3(DLL3):c.1362T>C (p.Ala454=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 892564	NM_203486.3(DLL3):c.984C>T (p.Val328=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 892563	NM_203486.3(DLL3):c.969C>T (p.Asn323=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811836	NM_203486.3(DLL3):c.1187C>T (p.Ala396Val)	DLL3 (A396V)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive	GUncertain significance
Select item 811612	NM_203486.3(DLL3):c.352-15C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 811548	NM_203486.3(DLL3):c.870+12C>G	DLL3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 811484	NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu)	DLL3 (F466L)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive	GUncertain significance
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 810983	NM_203486.3(DLL3):c.409+61G>A	DLL3	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 1, autosomal recessive	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 764837	NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu)	DLL3 (R463L)	Single nucleotide variant (missense variant)	Syndactyly +3 more	GBenign/Likely benign
Select item 737861	NM_203486.3(DLL3):c.1123C>T (p.Leu375=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 711080	NM_203486.3(DLL3):c.1623G>A (p.Pro541=)	DLL3, LOC130064419	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 632311	NM_203486.3(DLL3):c.395del (p.Gly132fs)	DLL3 (G132fs)	Deletion (frameshift variant)	DLL3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 593380	NM_203486.3(DLL3):c.63C>T (p.Leu21=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign/Likely benign
Select item 559885	NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)	DLL3, LOC130064417 (C178*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 1, autosomal recessive	GLikely pathogenic
Select item 515510	NM_203486.3(DLL3):c.1758+57C>T	DLL3	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 501672	NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	DLL3, LOC130064417 (P206A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 499140	NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	DLL3 (V328F)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GConflicting classifications of pathogenicity
Select item 497714	NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser)	DLL3 (N364S)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 449192	NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)	DLL3 (G269R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426921	NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)	DLL3 (A462T)	Single nucleotide variant (missense variant)	DLL3-related disorder +2 more	GBenign/Likely benign
Select item 419705	NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)	DLL3, LOC130064417 (C207*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 386780	NM_203486.3(DLL3):c.543T>C (p.Pro181=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 380469	NM_203486.3(DLL3):c.674G>A (p.Ser225Asn)	DLL3 (S225N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 329242	NM_203486.3(DLL3):c.1759-53A>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 329241	NM_203486.3(DLL3):c.1759-162A>G	DLL3	Single nucleotide variant (3 prime UTR variant +1 more)	Syndactyly +1 more	GUncertain significance
Select item 329240	NM_203486.3(DLL3):c.1758+20C>G	DLL3 (P593R)	Single nucleotide variant (missense variant +1 more)	Syndactyly +2 more	GUncertain significance
Select item 329239	NM_203486.3(DLL3):c.1383A>C (p.Gly461=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +1 more	GUncertain significance
Select item 329238	NM_203486.3(DLL3):c.1356C>T (p.Val452=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 329237	NM_203486.3(DLL3):c.1143C>T (p.Ala381=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign
Select item 329236	NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg)	DLL3 (G344R)	Single nucleotide variant (missense variant)	Syndactyly +2 more	GUncertain significance
Select item 329235	NM_203486.3(DLL3):c.939G>A (p.Gly313=)	DLL3	Single nucleotide variant (synonymous variant)	DLL3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 329234	NM_203486.3(DLL3):c.779C>A (p.Pro260His)	DLL3 (P260H)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GUncertain significance
Select item 329233	NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr)	DLL3, LOC130064417 (C207Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 329232	NM_203486.3(DLL3):c.618C>T (p.Pro206=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 329231	NM_203486.3(DLL3):c.452G>A (p.Arg151His)	DLL3, LOC130064417 (R151H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 289692	NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp)	DLL3 (R356W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286841	NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	DLL3 (P226R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285283	NM_203486.3(DLL3):c.390G>A (p.Glu130=)	DLL3	Single nucleotide variant (synonymous variant)	DLL3-related disorder +4 more	GBenign/Likely benign
Select item 260780	NM_203486.3(DLL3):c.546C>G (p.Ala182=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260779	NM_203486.3(DLL3):c.410-40C>T	DLL3, LOC130064417	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 260778	NM_203486.3(DLL3):c.352-18C>G	DLL3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 260777	NM_203486.3(DLL3):c.1674-10C>T	DLL3	Single nucleotide variant (intron variant)	Syndactyly +3 more	GBenign/Likely benign
Select item 260776	NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe)	DLL3, LOC130064419 (S521F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 260775	NM_203486.3(DLL3):c.153C>T (p.Ser51=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GConflicting classifications of pathogenicity
Select item 260774	NM_203486.3(DLL3):c.1307G>A (p.Arg436His)	DLL3 (R436H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 260773	NM_203486.3(DLL3):c.1152G>A (p.Ala384=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260772	NM_203486.3(DLL3):c.1029C>T (p.Pro343=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +3 more	GBenign
Select item 191104	NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr)	DLL3 (C379Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 41379	NM_203486.3(DLL3):c.653T>C (p.Leu218Pro)	DLL3 (L218P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 41378	NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)	DLL3, LOC130064417 +1 more (F172C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 41377	NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)	DLL3, LOC130064417 (L142Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 6835	NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)	DLL3, LOC130064419 (G504D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 6834	NM_203486.3(DLL3):c.1440del (p.Pro481fs)	DLL3 (P481fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 1, autosomal recessive	GPathogenic
Select item 6833	NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)	DLL3 (R238*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6832	NM_203486.3(DLL3):c.618del (p.Cys207fs)	DLL3, LOC130064417 (C207fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 6831	NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs)	DLL3, LOC130064418 (P437fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 1, autosomal recessive	GPathogenic
Select item 6830	NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)	DLL3 (G385D)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive	GPathogenic
Select item 6829	NM_203486.3(DLL3):c.945_946del (p.Ala317fs)	DLL3 (A317fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6828	NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)	DLL3, LOC130064417 +1 more (P202fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic

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Items: 99