C1970841[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368677	NM_153252.5(BRWD3):c.*6957C>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368678	NM_153252.5(BRWD3):c.*6902G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368679	NM_153252.5(BRWD3):c.*6871G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368680	NM_153252.5(BRWD3):c.*6862T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 914164	NM_153252.5(BRWD3):c.*6692A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368681	NM_153252.5(BRWD3):c.*6640T>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 914165	NM_153252.5(BRWD3):c.*6451T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368682	NM_153252.5(BRWD3):c.*6439G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914166	NM_153252.5(BRWD3):c.*6331C>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368683	NM_153252.5(BRWD3):c.*6248A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368684	NM_153252.5(BRWD3):c.*6197T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368685	NM_153252.5(BRWD3):c.*6157C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368687	NM_153252.5(BRWD3):c.*5993G>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368688	NM_153252.5(BRWD3):c.*5790G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914667	NM_153252.5(BRWD3):c.*5773A>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914668	NM_153252.5(BRWD3):c.*5741G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368689	NM_153252.5(BRWD3):c.*5514T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368690	NM_153252.5(BRWD3):c.*5481A>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368691	NM_153252.5(BRWD3):c.*5461T>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368692	NM_153252.5(BRWD3):c.*5333G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368693	NM_153252.5(BRWD3):c.*5264G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 912701	NM_153252.5(BRWD3):c.*5142A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368694	NM_153252.5(BRWD3):c.*5133G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368695	NM_153252.5(BRWD3):c.*4809T>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 912702	NM_153252.5(BRWD3):c.*4661A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368696	NM_153252.5(BRWD3):c.*4581C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368697	NM_153252.5(BRWD3):c.*4272C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368698	NM_153252.5(BRWD3):c.*4223C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368699	NM_153252.5(BRWD3):c.*4194C>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GLikely benign
Select item 913807	NM_153252.5(BRWD3):c.*4139T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368700	NM_153252.5(BRWD3):c.*3850G>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368701	NM_153252.5(BRWD3):c.*3787T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 913808	NM_153252.5(BRWD3):c.*3738A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 913809	NM_153252.5(BRWD3):c.*3594T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368702	NM_153252.5(BRWD3):c.*3483G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 914212	NM_153252.5(BRWD3):c.*3447G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 914213	NM_153252.5(BRWD3):c.*3377T>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914214	NM_153252.5(BRWD3):c.*3293C>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914215	NM_153252.5(BRWD3):c.*3252T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368703	NM_153252.5(BRWD3):c.*3083G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368704	NM_153252.5(BRWD3):c.*2877G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914216	NM_153252.5(BRWD3):c.*2875A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368705	NM_153252.5(BRWD3):c.*2831C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368706	NM_153252.5(BRWD3):c.*2744A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GLikely benign
Select item 914703	NM_153252.5(BRWD3):c.*2723A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368707	NM_153252.5(BRWD3):c.*2710G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368708	NM_153252.5(BRWD3):c.*2626C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368709	NM_153252.5(BRWD3):c.*2594T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914704	NM_153252.5(BRWD3):c.*2413T>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368710	NM_153252.5(BRWD3):c.*2329A>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368711	NM_153252.5(BRWD3):c.*2323G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368712	NM_153252.5(BRWD3):c.*2154A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368713	NM_153252.5(BRWD3):c.*1992G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368714	NM_153252.5(BRWD3):c.*1895C>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 912751	NM_153252.5(BRWD3):c.*1820G>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368715	NM_153252.5(BRWD3):c.*1703T>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368716	NM_153252.5(BRWD3):c.*1592G>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368717	NM_153252.5(BRWD3):c.*1473T>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 912752	NM_153252.5(BRWD3):c.*1394G>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368718	NM_153252.5(BRWD3):c.*1372T>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 368719	NM_153252.5(BRWD3):c.*1036A>C	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 913112	NM_153252.5(BRWD3):c.*847G>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 913113	NM_153252.5(BRWD3):c.*802A>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 976585	NM_153252.5(BRWD3):c.*799C>A	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 976586	NM_153252.5(BRWD3):c.*575G>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 913116	NM_153252.5(BRWD3):c.*248C>T	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368722	NM_153252.5(BRWD3):c.*121C>G	BRWD3	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368723	NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +3 more	GBenign/Likely benign
Select item 128531	NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +2 more	GBenign/Likely benign
Select item 2143665	NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)	BRWD3 (S1462G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +2 more	GConflicting classifications of pathogenicity
Select item 914258	NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr)	BRWD3 (R1443T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 368724	NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914259	NM_153252.5(BRWD3):c.3965C>T (p.Ser1322Leu)	BRWD3 (S1322L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +1 more	GUncertain significance
Select item 914260	NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +1 more	GBenign
Select item 1328127	NM_153252.5(BRWD3):c.3730G>C (p.Asp1244His)	BRWD3 (D1244H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914752	NM_153252.5(BRWD3):c.3602+15A>C	BRWD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 914753	NM_153252.5(BRWD3):c.3602+14T>A	BRWD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 914754	NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 914755	NM_153252.5(BRWD3):c.2943+13A>G	BRWD3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 914756	NM_153252.5(BRWD3):c.2326-14C>A	BRWD3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 252790	NM_153252.5(BRWD3):c.2325+5G>A	BRWD3	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 368727	NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +3 more	GBenign/Likely benign
Select item 914757	NM_153252.5(BRWD3):c.2044+13A>G	BRWD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 912796	NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr)	BRWD3 (A676T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 912797	NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro)	BRWD3 (S462P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +1 more	GConflicting classifications of pathogenicity
Select item 912798	NM_153252.5(BRWD3):c.957C>A (p.Val319=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93	GBenign
Select item 368728	NM_153252.5(BRWD3):c.814-8T>A	BRWD3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 96518	NM_153252.5(BRWD3):c.813+10G>C	BRWD3	Single nucleotide variant (intron variant)	BRWD3-related condition +3 more	GBenign/Likely benign
Select item 198921	NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)	BRWD3 (V257I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +3 more	GBenign/Likely benign
Select item 912799	NM_153252.5(BRWD3):c.637C>T (p.Arg213Cys)	BRWD3 (R213C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 210543	NM_153252.5(BRWD3):c.597A>C (p.Ser199=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 913158	NM_153252.5(BRWD3):c.96A>G (p.Leu32=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195424	NM_153252.5(BRWD3):c.33G>A (p.Glu11=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +3 more	GBenign/Likely benign
Select item 913159	NM_153252.5(BRWD3):c.-229C>T	BRWD3	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 93	GBenign
Select item 913160	NM_153252.5(BRWD3):c.-267C>T	BRWD3	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 93	GUncertain significance

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Items: 95