C1832661[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887961	NM_022369.4(STRA6):c.*582T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317079	NM_022369.4(STRA6):c.*569T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GBenign
Select item 317080	NM_022369.4(STRA6):c.*489T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GBenign
Select item 317082	NM_022369.4(STRA6):c.*399G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317083	NM_022369.4(STRA6):c.*381C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884818	NM_022369.4(STRA6):c.*368G>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317084	NM_022369.4(STRA6):c.*324C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317085	NM_022369.4(STRA6):c.*222G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 884819	NM_022369.4(STRA6):c.*190C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317087	NM_022369.4(STRA6):c.*189G>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317088	NM_022369.4(STRA6):c.*178C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885751	NM_022369.4(STRA6):c.*141G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317089	NM_022369.4(STRA6):c.*127T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 885752	NM_022369.4(STRA6):c.*105G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317090	NM_022369.4(STRA6):c.*89T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317091	NM_022369.4(STRA6):c.*75C>A	STRA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 885753	NM_022369.4(STRA6):c.*72C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317092	NM_022369.4(STRA6):c.*32G>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886754	NM_022369.4(STRA6):c.*10A>C	STRA6	Single nucleotide variant (3 prime UTR variant)	STRA6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 317093	NM_022369.4(STRA6):c.1992T>C (p.Gly664=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317094	NM_022369.4(STRA6):c.1970C>T (p.Thr657Met)	STRA6 (T657M +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317095	NM_022369.4(STRA6):c.1957G>A (p.Val653Ile)	STRA6 (V653I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317096	NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser)	STRA6 (G635S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 886755	NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala)	STRA6 (S614A +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317097	NM_022369.4(STRA6):c.1840+12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +1 more	GBenign/Likely benign
Select item 317098	NM_022369.4(STRA6):c.1836C>T (p.Asp612=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome +1 more	GBenign
Select item 888026	NM_022369.4(STRA6):c.1803C>T (p.Ala601=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 317099	NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr)	STRA6 (A591T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 888027	NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala)	STRA6 (T556A +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317100	NM_022369.4(STRA6):c.1685-5C>G	STRA6	Single nucleotide variant (intron variant)	STRA6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 888028	NM_022369.4(STRA6):c.1685-15G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign
Select item 888029	NM_022369.4(STRA6):c.1670C>T (p.Ala557Val)	STRA6 (A572V +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 261578	NM_022369.4(STRA6):c.1581G>A (p.Met527Ile)	STRA6 (M527I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +2 more	GBenign
Select item 317101	NM_022369.4(STRA6):c.1566G>T (p.Val522=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 884899	NM_022369.4(STRA6):c.1565T>G (p.Val522Gly)	STRA6 (V522G +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884900	NM_022369.4(STRA6):c.1520+14T>C	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884901	NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp)	STRA6 (R546W +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317102	NM_022369.4(STRA6):c.1418+10del	STRA6	Deletion (intron variant)	Matthew-Wood syndrome +1 more	GConflicting classifications of pathogenicity
Select item 317103	NM_022369.4(STRA6):c.1416G>A (p.Ser472=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GBenign/Likely benign
Select item 884902	NM_022369.4(STRA6):c.1377T>C (p.His459=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317104	NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp)	STRA6 (A450D +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884903	NM_022369.4(STRA6):c.1341G>A (p.Thr447=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885820	NM_022369.4(STRA6):c.1301-12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign/Likely benign
Select item 885821	NM_022369.4(STRA6):c.1300+10C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317105	NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys)	STRA6 (W420C +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 708447	NM_022369.4(STRA6):c.1242C>T (p.Arg414=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 194429	NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)	STRA6 (R408Q +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 261577	NM_022369.4(STRA6):c.1167-10C>G	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome +2 more	GBenign
Select item 317106	NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu)	STRA6 (W360L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317107	NM_022369.4(STRA6):c.993G>A (p.Thr331=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886826	NM_022369.4(STRA6):c.945G>A (p.Leu315=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317108	NM_022369.4(STRA6):c.865+7G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317109	NM_022369.4(STRA6):c.853A>T (p.Thr285Ser)	STRA6 (T285S +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886827	NM_022369.4(STRA6):c.741T>G (p.Ser247=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317110	NM_022369.4(STRA6):c.720+15C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886828	NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys)	STRA6 (Y194C +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317111	NM_022369.4(STRA6):c.597+9T>G	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	Matthew-Wood syndrome	GBenign
Select item 317112	NM_022369.4(STRA6):c.597+7G>A	STRA6	Single nucleotide variant (intron variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 317113	NM_022369.4(STRA6):c.406+5C>T	STRA6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 317114	NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)	STRA6 (A130T +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 737530	NM_022369.4(STRA6):c.387C>A (p.Leu129=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome +1 more	GConflicting classifications of pathogenicity
Select item 317115	NM_022369.4(STRA6):c.386T>C (p.Leu129Pro)	STRA6 (L129P +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 464034	NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)	STRA6 (A123P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 317116	NM_022369.4(STRA6):c.366C>T (p.Asp122=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287343	NM_022369.4(STRA6):c.357C>T (p.Pro119=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317117	NM_022369.4(STRA6):c.331C>T (p.Leu111=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 884973	NM_022369.4(STRA6):c.181A>T (p.Ile61Phe)	STRA6 (I98F +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884974	NM_022369.4(STRA6):c.180A>G (p.Ser60=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 464032	NM_022369.4(STRA6):c.173C>T (p.Ser58Leu)	STRA6 (S58L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767228	NM_022369.4(STRA6):c.105G>A (p.Gln35=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GBenign
Select item 317118	NM_022369.4(STRA6):c.91G>A (p.Gly31Ser)	STRA6 (G31S +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GBenign/Likely benign
Select item 317119	NM_022369.4(STRA6):c.4T>C (p.Ser2Pro)	STRA6 (S2P +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884975	NM_022369.4(STRA6):c.-15-14G>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884976	NM_022369.4(STRA6):c.-28G>C	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 885886	NM_022369.4(STRA6):c.-83G>A	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	Matthew-Wood syndrome	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75