C1839736[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2886007	NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)	LAS1L (G407R +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2992367	NM_031206.7(LAS1L):c.2166G>A (p.Gly722=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2856637	NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)	LAS1L (G701S +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2042094	NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GBenign/Likely benign
Select item 1005027	NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln)	LAS1L (R365Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 464824	NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp)	LAS1L (R684W +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1661817	NM_031206.7(LAS1L):c.2022T>C (p.Tyr674=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 1169775	NM_031206.7(LAS1L):c.1927+9del	LAS1L	Deletion (intron variant)	Wilson-Turner syndrome	GBenign
Select item 1131100	NM_031206.7(LAS1L):c.1911A>G (p.Ala637=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 760134	NM_031206.7(LAS1L):c.1893A>C (p.Gly631=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GBenign/Likely benign
Select item 464823	NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala)	LAS1L (G631A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1402244	NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile)	LAS1L (R311I +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1690406	NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys)	LAS1L (R305K +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GUncertain significance
Select item 1572603	NM_031206.7(LAS1L):c.1860C>T (p.Ala620=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1056523	NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala)	LAS1L (T294A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2169683	NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)	LAS1L (V289L +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1582618	NM_031206.7(LAS1L):c.1806G>A (p.Glu602=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 702347	NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1])	LAS1L	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 533410	NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del)	LAS1L (D597del +3 more)	Microsatellite (inframe_deletion +1 more)	Wilson-Turner syndrome	GBenign
Select item 1114588	NM_031206.7(LAS1L):c.1770G>A (p.Glu590=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 464822	NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)	LAS1L (V579I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 649903	NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu)	LAS1L (K552E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 533408	NM_031206.7(LAS1L):c.1691T>C (p.Val564Ala)	LAS1L (V564A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 2907128	NM_031206.7(LAS1L):c.1662A>G (p.Gln554=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 864372	NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala)	LAS1L (P524A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2715633	NM_031206.7(LAS1L):c.1505G>A (p.Arg502His)	LAS1L (R183H +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 964726	NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys)	LAS1L (E495K +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 533407	NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp)	LAS1L (G491D +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1628837	NM_031206.7(LAS1L):c.1449-15C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 1112575	NM_031206.7(LAS1L):c.1392G>A (p.Arg464=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 464821	NM_031206.7(LAS1L):c.1371C>T (p.Ser457=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 1170743	NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GBenign/Likely benign
Select item 2039911	NM_031206.7(LAS1L):c.1301-18T>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GBenign
Select item 1045920	NM_031206.7(LAS1L):c.1282G>A (p.Val428Met)	LAS1L (V411M +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 1402133	NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile)	LAS1L (V365I +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 707371	NM_031206.7(LAS1L):c.1269C>T (p.Thr423=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 374326	NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)	LAS1L (R415W +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GLikely pathogenic
Select item 2420180	NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GBenign
Select item 2153243	NM_031206.7(LAS1L):c.1209C>T (p.Leu403=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 580915	NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser)	LAS1L (R401S +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1168876	NM_031206.7(LAS1L):c.1185G>A (p.Thr395=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GBenign
Select item 2918320	NM_031206.7(LAS1L):c.1165C>T (p.Leu389=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome	GLikely benign
Select item 2754641	NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala)	LAS1L (P360A +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1603569	NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile)	LAS1L (V313I +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GBenign
Select item 661084	NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu)	LAS1L (V372L +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2140360	NM_031206.7(LAS1L):c.1093+18C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 2907195	NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)	LAS1L	Single nucleotide variant (intron variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 464820	NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg)	LAS1L (P361R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1644028	NM_031206.7(LAS1L):c.1042+11G>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 780165	NM_031206.7(LAS1L):c.1002C>T (p.Pro334=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GLikely benign
Select item 2578252	NM_031206.7(LAS1L):c.942_956+6dup	LAS1L	Duplication (splice donor variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 1021687	NM_031206.7(LAS1L):c.948C>T (p.Cys316=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1906687	NM_031206.7(LAS1L):c.947G>A (p.Cys316Tyr)	LAS1L (C316Y +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 533406	NM_031206.7(LAS1L):c.940G>A (p.Val314Ile)	LAS1L (V314I +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 579081	NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser)	LAS1L (G313S +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2713127	NM_031206.7(LAS1L):c.900G>A (p.Pro300=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1127433	NM_031206.7(LAS1L):c.882T>A (p.Ile294=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1567027	NM_031206.7(LAS1L):c.837G>A (p.Glu279=)	LAS1L (S14N)	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1118124	NM_031206.7(LAS1L):c.801A>G (p.Glu267=)	LAS1L (K2R)	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1169767	NM_031206.7(LAS1L):c.763C>T (p.His255Tyr)	LAS1L (H213Y +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GBenign
Select item 938360	NM_031206.7(LAS1L):c.754G>A (p.Val252Met)	LAS1L (V210M +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 533411	NM_031206.7(LAS1L):c.747C>T (p.Ser249=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 2433415	NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)	LAS1L (D201N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2711591	NM_031206.7(LAS1L):c.717T>C (p.Asp239=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 577687	NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr)	LAS1L (D239Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1169344	NM_031206.7(LAS1L):c.707C>T (p.Thr236Met)	LAS1L (T194M +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GBenign
Select item 1022624	NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala)	LAS1L (T194A +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1448734	NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn)	LAS1L (S193N +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1395058	NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg)	LAS1L (Q225R +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1699481	NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)	LAS1L (D179E +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 2080314	NM_031206.7(LAS1L):c.639A>G (p.Glu213=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1593892	NM_031206.7(LAS1L):c.594G>A (p.Glu198=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 2036943	NM_031206.7(LAS1L):c.515-5del	LAS1L	Deletion (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 573910	NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn)	LAS1L (D168N +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 3004826	NM_031206.7(LAS1L):c.433-19C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 2886755	NM_031206.7(LAS1L):c.432+15G>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 464825	NM_031206.7(LAS1L):c.381A>G (p.Ser127=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 3015007	NM_031206.7(LAS1L):c.362+20G>C	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GBenign
Select item 1961718	NM_031206.7(LAS1L):c.362+15G>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 1193682	NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp)	LAS1L (G107D)	Single nucleotide variant (missense variant +3 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 2145612	NM_031206.7(LAS1L):c.236+10C>G	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 1157721	NM_031206.7(LAS1L):c.231G>A (p.Arg77=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1367540	NM_031206.7(LAS1L):c.222G>A (p.Thr74=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1585672	NM_031206.7(LAS1L):c.204C>T (p.Tyr68=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1092408	NM_031206.7(LAS1L):c.186C>T (p.Asp62=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 533409	NM_031206.7(LAS1L):c.159G>A (p.Gln53=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 1639304	NM_031206.7(LAS1L):c.132C>T (p.Ala44=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1922986	NM_031206.7(LAS1L):c.108C>T (p.Leu36=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 464826	NM_031206.7(LAS1L):c.99G>C (p.Ser33=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 760100	NM_031206.7(LAS1L):c.75A>G (p.Gly25=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome +1 more	GLikely benign
Select item 2721370	NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg)	LAS1L (G15R)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1548442	NM_031206.7(LAS1L):c.21C>T (p.Ala7=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GLikely benign
Select item 704102	NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu)	LAS1L (S2L)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 93