"Illumina Laboratory Services, Illumina"[submitter] AND "SMC3"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 877379	NM_005445.3(SMC3):c.-136A>G	SMC3	Single nucleotide variant	Cornelia de Lange syndrome 3	GUncertain significance
Select item 368881	NM_005445.3(SMC3):c.-135G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 368882	NM_005445.3(SMC3):c.-130G>A	SMC3	Single nucleotide variant	De Lange syndrome	GLikely benign
Select item 298758	NM_005445.4(SMC3):c.-115T>C	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298759	NM_005445.4(SMC3):c.-99C>A	SMC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 298760	NM_005445.4(SMC3):c.-92G>T	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GBenign
Select item 877380	NM_005445.4(SMC3):c.-90G>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298761	NM_005445.4(SMC3):c.-74C>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 298762	NM_005445.4(SMC3):c.-65T>A	SMC3	Single nucleotide variant (5 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 878402	NM_005445.4(SMC3):c.198+3G>A	SMC3	Single nucleotide variant (intron variant)	SMC3-related condition +1 more	GLikely benign
Select item 708136	NM_005445.4(SMC3):c.198+7G>A	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3 +1 more	GBenign
Select item 159980	NM_005445.4(SMC3):c.255A>G (p.Ser85=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 298763	NM_005445.4(SMC3):c.276T>C (p.Asp92=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 159986	NM_005445.4(SMC3):c.351-9T>C	SMC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 298764	NM_005445.4(SMC3):c.369C>T (p.Asn123=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159989	NM_005445.4(SMC3):c.548-5_548-4dup	SMC3	Duplication (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 298765	NM_005445.4(SMC3):c.723+4A>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159991	NM_005445.4(SMC3):c.724-6dup	SMC3	Duplication (intron variant)	not specified +3 more	GBenign
Select item 878992	NM_005445.4(SMC3):c.929A>G (p.Lys310Arg)	SMC3 (K310R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298766	NM_005445.4(SMC3):c.970-14T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 159992	NM_005445.4(SMC3):c.970-8G>A	SMC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 159965	NM_005445.4(SMC3):c.1092-8T>G	SMC3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3069163	NM_005445.4(SMC3):c.1190dup (p.Glu398fs)	SMC3 (E398fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159966	NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)	SMC3 (K427R)	Single nucleotide variant (missense variant)	SMC3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 878993	NM_005445.4(SMC3):c.1330G>A (p.Val444Ile)	SMC3 (V444I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159967	NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +2 more	GBenign
Select item 989294	NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)	SMC3 (W473C)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 298767	NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser)	SMC3 (R520S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298768	NM_005445.4(SMC3):c.1670+6_1670+7insAAC	SMC3	Insertion (intron variant)	Cornelia de Lange syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 298769	NM_005445.4(SMC3):c.1671-6A>G	SMC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 298770	NM_005445.4(SMC3):c.1671-4T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3 +1 more	GBenign
Select item 159969	NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 734394	NM_005445.4(SMC3):c.1890T>A (p.Thr630=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 880214	NM_005445.4(SMC3):c.1998G>C (p.Gly666=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159971	NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 298771	NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln)	SMC3 (E688Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298772	NM_005445.4(SMC3):c.2085G>A (p.Lys695=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 877432	NM_005445.4(SMC3):c.2163C>T (p.Ile721=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GConflicting classifications of pathogenicity
Select item 159973	NM_005445.4(SMC3):c.2268+4C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 298773	NM_005445.4(SMC3):c.2268+13A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 159975	NM_005445.4(SMC3):c.2329T>C (p.Leu777=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 877433	NM_005445.4(SMC3):c.2406T>C (p.Asp802=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 877434	NM_005445.4(SMC3):c.2472T>C (p.Ile824=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298774	NM_005445.4(SMC3):c.2535+28dup	SMC3	Duplication (intron variant)	De Lange syndrome +1 more	GConflicting classifications of pathogenicity
Select item 298775	NM_005445.4(SMC3):c.2535+28del	SMC3	Deletion (intron variant)	De Lange syndrome +1 more	GBenign
Select item 159979	NM_005445.4(SMC3):c.2535+15T>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GConflicting classifications of pathogenicity
Select item 878457	NM_005445.4(SMC3):c.2589A>G (p.Thr863=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298776	NM_005445.4(SMC3):c.2645-8C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 878458	NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala)	SMC3 (S886A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 774048	NM_005445.4(SMC3):c.2782C>A (p.Arg928=)	SMC3	Single nucleotide variant (synonymous variant)	SMC3-related condition +1 more	GLikely benign
Select item 878459	NM_005445.4(SMC3):c.2892+9T>C	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159983	NM_005445.4(SMC3):c.2934G>A (p.Lys978=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 159985	NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +3 more	GBenign
Select item 879043	NM_005445.4(SMC3):c.3147T>C (p.Pro1049=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298777	NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)	SMC3 (V1087I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 879044	NM_005445.4(SMC3):c.3321T>C (p.Gly1107=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 879045	NM_005445.4(SMC3):c.*12T>A	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298778	NM_005445.4(SMC3):c.*17A>G	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GLikely benign
Select item 879046	NM_005445.4(SMC3):c.*36A>G	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 879047	NM_005445.4(SMC3):c.*50C>G	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298779	NM_005445.4(SMC3):c.*77C>T	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298780	NM_005445.4(SMC3):c.*158G>A	SMC3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880258	NM_005445.4(SMC3):c.*228C>T	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298781	NM_005445.4(SMC3):c.*298del	SMC3	Deletion (3 prime UTR variant)	De Lange syndrome	GUncertain significance
Select item 298782	NM_005445.4(SMC3):c.*297T>A	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GBenign
Select item 880259	NM_005445.4(SMC3):c.*304T>G	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 880260	NM_005445.4(SMC3):c.*327G>C	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 298783	NM_005445.4(SMC3):c.*329C>T	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GBenign
Select item 298784	NM_005445.4(SMC3):c.*332A>G	SMC3	Single nucleotide variant (3 prime UTR variant)	Cornelia de Lange syndrome 3	GBenign

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Items: 69