C1853099[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159980	NM_005445.4(SMC3):c.255A>G (p.Ser85=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159986	NM_005445.4(SMC3):c.351-9T>C	SMC3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 159987	NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)	SMC3 (E126G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159988	NM_005445.4(SMC3):c.507C>T (p.Asp169=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GConflicting classifications of pathogenicity
Select item 159989	NM_005445.4(SMC3):c.548-5_548-4dup	SMC3	Duplication (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1336098	NM_005445.4(SMC3):c.621G>A (p.Lys207=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159990	NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)	SMC3 (R236P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 159991	NM_005445.4(SMC3):c.724-6dup	SMC3	Duplication (intron variant)	not specified +3 more	GBenign
Select item 212273	NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup)	SMC3	Microsatellite (inframe_insertion)	Cornelia de Lange syndrome 3	GLikely pathogenic
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 159966	NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)	SMC3 (K427R)	Single nucleotide variant (missense variant)	SMC3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 159967	NM_005445.4(SMC3):c.1365T>C (p.Tyr455=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 159968	NM_005445.4(SMC3):c.1581T>C (p.His527=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 159969	NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159970	NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)	SMC3 (G655D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 436822	NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp)	SMC3 (Y669D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 159971	NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 159972	NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu)	SMC3 (P755L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159973	NM_005445.4(SMC3):c.2268+4C>T	SMC3	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159974	NM_005445.4(SMC3):c.2299T>C (p.Leu767=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159975	NM_005445.4(SMC3):c.2329T>C (p.Leu777=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159976	NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln)	SMC3 (E780Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 159977	NM_005445.4(SMC3):c.2427+13C>T	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159978	NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 212272	NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro)	SMC3 (R879P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 159981	NM_005445.4(SMC3):c.2644+6T>A	SMC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 159982	NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg)	SMC3 (W904R)	Single nucleotide variant (missense 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 159984	NM_005445.4(SMC3):c.2964T>C (p.Asp988=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 159985	NM_005445.4(SMC3):c.3039A>G (p.Ser1013=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 436823	NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)	SMC3 (L1125V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic

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Items: 33