"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 994133	NM_203486.3(DLL3):c.138G>A (p.Pro46=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 811612	NM_203486.3(DLL3):c.352-15C>T	DLL3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285283	NM_203486.3(DLL3):c.390G>A (p.Glu130=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GBenign/Likely benign
Select item 994083	NM_203486.3(DLL3):c.409+6T>C	DLL3	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 993545	NM_203486.3(DLL3):c.409+19G>T	DLL3	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GBenign/Likely benign
Select item 810983	NM_203486.3(DLL3):c.409+61G>A	DLL3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 260779	NM_203486.3(DLL3):c.410-40C>T	DLL3, LOC130064417	Single nucleotide variant (intron variant)	Spondylocostal dysostosis 1, autosomal recessive +2 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 41378	NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)	DLL3, LOC130064417 +1 more (F172C)	Single nucleotide variant (missense variant)	Leukodystrophy and acquired microcephaly with or without dystonia; +4 more	GBenign
Select item 386780	NM_203486.3(DLL3):c.543T>C (p.Pro181=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GBenign/Likely benign
Select item 260780	NM_203486.3(DLL3):c.546C>G (p.Ala182=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 329232	NM_203486.3(DLL3):c.618C>T (p.Pro206=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GLikely benign
Select item 380469	NM_203486.3(DLL3):c.674G>A (p.Ser225Asn)	DLL3 (S225N)	Single nucleotide variant (missense variant)	Syndactyly +3 more	GBenign
Select item 286841	NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	DLL3 (P226R)	Single nucleotide variant (missense variant)	Syndactyly +3 more	GConflicting classifications of pathogenicity
Select item 618062	NM_203486.3(DLL3):c.747G>A (p.Thr249=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 499140	NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	DLL3 (V328F)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 892564	NM_203486.3(DLL3):c.984C>T (p.Val328=)	DLL3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1390694	NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn)	DLL3 (K352N)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GUncertain significance
Select item 329237	NM_203486.3(DLL3):c.1143C>T (p.Ala381=)	DLL3	Single nucleotide variant (synonymous variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GBenign
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 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 260774	NM_203486.3(DLL3):c.1307G>A (p.Arg436His)	DLL3 (R436H)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +2 more	GBenign/Likely benign
Select item 329238	NM_203486.3(DLL3):c.1356C>T (p.Val452=)	DLL3	Single nucleotide variant (synonymous variant)	Syndactyly +2 more	GLikely benign
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 426921	NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)	DLL3 (A462T)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +1 more	GBenign/Likely benign
Select item 618061	NM_203486.3(DLL3):c.1386G>T (p.Ala462=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	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 260776	NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe)	DLL3, LOC130064419 (S521F)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GBenign/Likely benign
Select item 260777	NM_203486.3(DLL3):c.1674-10C>T	DLL3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign

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Items: 35