C1838437[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366385	NM_000459.4(TEK):c.-425A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 366386	NM_000459.5(TEK):c.-354A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366387	NM_000459.5(TEK):c.-326A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366388	NM_000459.5(TEK):c.-275dup	TEK	Duplication (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366389	NM_000459.5(TEK):c.-96G>A	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366390	NM_000459.5(TEK):c.-21G>A	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 913742	NM_000459.5(TEK):c.12A>C (p.Leu4Phe)	TEK (L4F)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366391	NM_000459.5(TEK):c.138C>T (p.Ala46=)	TEK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 366392	NM_000459.5(TEK):c.234G>A (p.Val78=)	TEK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 913743	NM_000459.5(TEK):c.267G>T (p.Lys89Asn)	TEK (K89N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 366393	NM_000459.5(TEK):c.309A>C (p.Glu103Asp)	TEK (E103D)	Single nucleotide variant (missense variant +1 more)	TEK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 913744	NM_000459.5(TEK):c.365-5A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366395	NM_000459.5(TEK):c.443T>C (p.Ile148Thr)	TEK (I148T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 914142	NM_000459.5(TEK):c.484A>T (p.Ile162Phe)	TEK (I162F +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 366396	NM_000459.5(TEK):c.677C>T (p.Ala226Val)	TEK (A226V +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign/Likely benign
Select item 914143	NM_000459.5(TEK):c.760+5G>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 914144	NM_000459.5(TEK):c.776C>T (p.Thr259Met)	TEK (T259M +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 914145	NM_000459.5(TEK):c.882G>C (p.Lys294Asn)	TEK (K190N +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366414	NM_000459.5(TEK):c.902-10C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 912728	NM_000459.5(TEK):c.1087A>G (p.Ser363Gly)	TEK (S320G +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 913087	NM_000459.5(TEK):c.1146A>G (p.Glu382=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366415	NM_000459.5(TEK):c.1172C>T (p.Thr391Ile)	TEK (T391I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 914241	NM_000459.5(TEK):c.1199A>G (p.His400Arg)	TEK (H253R +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366416	NM_000459.5(TEK):c.1236C>T (p.His412=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 618424	NM_000459.5(TEK):c.1313A>G (p.Asn438Ser)	TEK (N438S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 716945	NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)	TEK (N449S +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign/Likely benign
Select item 366423	NM_000459.5(TEK):c.1387A>G (p.Ile463Val)	TEK (I463V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366424	NM_000459.5(TEK):c.1390A>C (p.Asn464His)	TEK (N464H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 913138	NM_000459.5(TEK):c.1446A>G (p.Leu482=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366425	NM_000459.5(TEK):c.1456G>A (p.Val486Ile)	TEK (V486I +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 914283	NM_000459.5(TEK):c.1507A>G (p.Thr503Ala)	TEK (T356A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366426	NM_000459.5(TEK):c.1565G>T (p.Arg522Leu)	TEK (R522L +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign/Likely benign
Select item 366427	NM_000459.5(TEK):c.1680T>C (p.Asn560=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 366428	NM_000459.5(TEK):c.1694C>G (p.Pro565Arg)	TEK (P565R +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366429	NM_000459.5(TEK):c.1734G>A (p.Val578=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366430	NM_000459.5(TEK):c.1798G>T (p.Val600Leu)	TEK (V600L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 366431	NM_000459.5(TEK):c.1834G>A (p.Val612Met)	TEK (V612M +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366432	NM_000459.5(TEK):c.1869G>A (p.Gly623=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 914284	NM_000459.5(TEK):c.1885C>T (p.Leu629Phe)	TEK (L629F +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366433	NM_000459.5(TEK):c.1900C>T (p.Leu634Phe)	TEK (L634F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 366434	NM_000459.5(TEK):c.1962A>G (p.Ser654=)	TEK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 366435	NM_000459.5(TEK):c.1973C>A (p.Ser658Tyr)	TEK (S658Y +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 914781	NM_000459.5(TEK):c.2040T>C (p.Asn680=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366436	NM_000459.5(TEK):c.2052C>T (p.His684=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366437	NM_000459.5(TEK):c.2094G>A (p.Gln698=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 914782	NM_000459.5(TEK):c.2125C>A (p.Gln709Lys)	TEK (Q709K +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366438	NM_000459.5(TEK):c.2170G>A (p.Ala724Thr)	TEK (A724T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 912821	NM_000459.5(TEK):c.2227G>A (p.Gly743Arg)	TEK (G596R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 366439	NM_000459.5(TEK):c.2322G>A (p.Arg774=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 366440	NM_000459.5(TEK):c.2444T>C (p.Ile815Thr)	TEK (I815T +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366441	NM_000459.5(TEK):c.2454G>C (p.Val818=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 976620	NM_000459.5(TEK):c.2546G>A (p.Arg849Gln)	TEK (R805Q +4 more)	Single nucleotide variant (missense variant)	TEK-related condition +1 more	GConflicting classifications of pathogenicity
Select item 976621	NM_000459.5(TEK):c.2575+3C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 976622	NM_000459.5(TEK):c.2575+4A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366442	NM_000459.5(TEK):c.2604C>T (p.Asp868=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366443	NM_000459.5(TEK):c.2718C>G (p.Pro906=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366444	NM_000459.5(TEK):c.2814C>G (p.Ser938=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 913188	NM_000459.5(TEK):c.2827C>T (p.His943Tyr)	TEK (H899Y +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366445	NM_000459.5(TEK):c.2838C>T (p.Ala946=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 366446	NM_000459.5(TEK):c.2877+8C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366447	NM_000459.5(TEK):c.2976T>C (p.Tyr992=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 366448	NM_000459.5(TEK):c.3090G>A (p.Glu1030=)	TEK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 913189	NM_000459.5(TEK):c.3099C>T (p.Ser1033=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366449	NM_000459.5(TEK):c.3104-15C>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366450	NM_000459.5(TEK):c.3123G>A (p.Gly1041=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 366451	NM_000459.5(TEK):c.3151C>T (p.Leu1051=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 366452	NM_000459.5(TEK):c.3153G>C (p.Leu1051=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366453	NM_000459.5(TEK):c.3200+12C>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 366454	NM_000459.5(TEK):c.3201-4G>A	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 632040	NM_000459.5(TEK):c.3252dup (p.Phe1085fs)	TEK (F1085fs +4 more)	Duplication (frameshift variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366455	NM_000459.5(TEK):c.3301-15T>C	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 914323	NM_000459.5(TEK):c.3309G>A (p.Val1103=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 366456	NM_000459.5(TEK):c.3315C>T (p.Thr1105=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 366457	NM_000459.5(TEK):c.3369G>A (p.Ala1123=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign/Likely benign
Select item 366458	NM_000459.5(TEK):c.*52T>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366459	NM_000459.5(TEK):c.*206A>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366460	NM_000459.5(TEK):c.*230T>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366461	NM_000459.5(TEK):c.*257T>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366462	NM_000459.5(TEK):c.*287C>T	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366463	NM_000459.5(TEK):c.*314C>G	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366464	NM_000459.5(TEK):c.*330A>G	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366465	NM_000459.5(TEK):c.*381C>G	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366466	NM_000459.5(TEK):c.*484C>G	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366467	NM_000459.5(TEK):c.*516TC[3]	TEK	Microsatellite (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 366468	NM_000459.5(TEK):c.*536C>T	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366469	NM_000459.5(TEK):c.*555C>T	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366471	NM_000459.5(TEK):c.*556G>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366470	NM_000459.5(TEK):c.*556G>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366472	NM_000459.5(TEK):c.*558T>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366473	NM_000459.5(TEK):c.*579T>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 913241	NM_000459.5(TEK):c.*674G>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366474	NM_000459.5(TEK):c.*684C>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 913242	NM_000459.5(TEK):c.*708G>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366475	NM_000459.5(TEK):c.*717T>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366476	NM_000459.5(TEK):c.788_789del	TEK	Deletion (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 913243	NM_000459.5(TEK):c.*862G>C	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366477	NM_000459.5(TEK):c.*904T>G	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366478	NM_000459.5(TEK):c.*922G>A	TEK	Single nucleotide variant (3 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign

ClinVar

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Items: 98