ClinVar for Gene (Select 81887) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375198	NM_031206.7(LAS1L):c.1643C>G (p.Ser548Cys)	LAS1L (S229C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366243	NM_031206.7(LAS1L):c.377T>C (p.Ile126Thr)	LAS1L (I126T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365502	NM_031206.7(LAS1L):c.683A>C (p.Glu228Ala)	LAS1L (E186A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363856	NM_031206.7(LAS1L):c.232A>G (p.Ser78Gly)	LAS1L (S78G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3348446	NM_031206.7(LAS1L):c.94G>A (p.Gly32Arg)	LAS1L (G32R)	Single nucleotide variant (missense variant +2 more)	LAS1L-related disorder	GUncertain significance
Select item 3341720	NM_031206.7(LAS1L):c.381A>C (p.Ser127=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3252788	NM_031206.7(LAS1L):c.1240A>T (p.Ile414Phe)	LAS1L (I355F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3117925	NM_031206.7(LAS1L):c.407T>C (p.Val136Ala)	LAS1L (V136A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3031405	NM_031206.7(LAS1L):c.-3A>C	LAS1L	Single nucleotide variant (5 prime UTR variant +1 more)	LAS1L-related disorder	GLikely benign
Select item 3027344	NM_031206.7(LAS1L):c.1989A>G (p.Ala663=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3004826	NM_031206.7(LAS1L):c.433-19C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
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 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 2907195	NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome	GUncertain significance
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 2886755	NM_031206.7(LAS1L):c.432+15G>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
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 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 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 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 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 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 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 2689364	NM_031206.7(LAS1L):c.1301-10T>C	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GUncertain significance
Select item 2660760	NM_031206.7(LAS1L):c.222G>T (p.Thr74=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2660759	NM_031206.7(LAS1L):c.665T>A (p.Ile222Asn)	LAS1L (I180N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2660758	NM_031206.7(LAS1L):c.723G>A (p.Lys241=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2660757	NM_031206.7(LAS1L):c.855G>A (p.Glu285=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2580524	NM_031206.7(LAS1L):c.740A>G (p.Lys247Arg)	LAS1L (K205R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2578058	NM_031206.7(LAS1L):c.1740GGA[2] (p.Glu584del)	LAS1L (E265del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2576955	NM_031206.7(LAS1L):c.564A>C (p.Gln188His)	LAS1L (Q146H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2575004	NM_031206.7(LAS1L):c.1324G>C (p.Ala442Pro)	LAS1L (A123P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574544	NM_031206.7(LAS1L):c.1099G>A (p.Val367Met)	LAS1L (V308M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571369	NM_031206.7(LAS1L):c.1614C>T (p.Ser538=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2552311	NM_031206.7(LAS1L):c.2117G>A (p.Cys706Tyr)	LAS1L (C688Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2507140	NM_031206.7(LAS1L):c.1739A>C (p.Glu580Ala)	LAS1L (E261A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499843	NM_031206.7(LAS1L):c.1532G>C (p.Gly511Ala)	LAS1L (G192A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2488775	NM_031206.7(LAS1L):c.2021A>G (p.Tyr674Cys)	LAS1L (Y673C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441728	NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)	LAS1L (E367G +5 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2433416	NM_031206.7(LAS1L):c.311G>T (p.Gly104Val)	LAS1L (G104V)	Single nucleotide variant (missense variant +3 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2433415	NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)	LAS1L (D201N +1 more)	Single nucleotide variant (missense variant +2 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 2433414	NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr)	LAS1L (P205T +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 2430096	NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)	LAS1L (E275K +1 more)	Single nucleotide variant (missense variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 2429291	NM_031206.7(LAS1L):c.178T>A (p.Cys60Ser)	LAS1L (C60S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2399734	NM_031206.7(LAS1L):c.42G>C (p.Gln14His)	LAS1L (Q14H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328893	NM_031206.7(LAS1L):c.1894G>A (p.Ala632Thr)	LAS1L (A573T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303937	NM_031206.7(LAS1L):c.709G>A (p.Glu237Lys)	LAS1L (E195K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246253	NM_031206.7(LAS1L):c.2170C>A (p.Leu724Met)	LAS1L (L707M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241630	NM_031206.7(LAS1L):c.1433C>G (p.Pro478Arg)	LAS1L (P461R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2145612	NM_031206.7(LAS1L):c.236+10C>G	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 2140360	NM_031206.7(LAS1L):c.1093+18C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
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 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 2039911	NM_031206.7(LAS1L):c.1301-18T>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GBenign
Select item 2036943	NM_031206.7(LAS1L):c.515-5del	LAS1L	Deletion (intron variant)	Wilson-Turner syndrome	GLikely benign
Select item 1961718	NM_031206.7(LAS1L):c.362+15G>A	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	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 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 1809939	NM_031206.7(LAS1L):c.1462A>G (p.Met488Val)	LAS1L (M169V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1809191	GRCh37/hg19 Xq11.2-12(chrX:64490318-64853602)x2	LAS1L, ZC3H12B	Copy number gain	not provided	GUncertain significance
Select item 1806706	NM_031206.7(LAS1L):c.318G>T (p.Leu106Phe)	LAS1L (L106F)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1806335	NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)	LAS1L (P205H +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome +1 more	GUncertain significance
Select item 1805162	NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)	LAS1L (A110T +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1804952	NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)	LAS1L (S219N +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson-Turner syndrome	GUncertain significance
Select item 1801921	NM_031206.7(LAS1L):c.1530T>G (p.Ser510Arg)	LAS1L (S191R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712701	NM_031206.7(LAS1L):c.846G>A (p.Thr282=)	LAS1L (R17Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1710399	NM_031206.7(LAS1L):c.846+5G>C	LAS1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706983	NM_031206.7(LAS1L):c.184G>C (p.Asp62His)	LAS1L (D62H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1704733	NM_031206.7(LAS1L):c.1196T>G (p.Leu399Trp)	LAS1L (L340W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1701765	NM_031206.7(LAS1L):c.515-6C>G	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GUncertain significance
Select item 1701638	NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del)	LAS1L	Microsatellite (inframe_deletion +1 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)	not specified +1 more	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 1690351	NM_031206.7(LAS1L):c.353C>T (p.Ala118Val)	LAS1L (A118V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1683380	NM_031206.7(LAS1L):c.7T>C (p.Trp3Arg)	LAS1L (W3R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1679798	Single allele	LAS1L, LOC113875034 +2 more	Duplication	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 1644028	NM_031206.7(LAS1L):c.1042+11G>T	LAS1L	Single nucleotide variant (intron variant)	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 1628837	NM_031206.7(LAS1L):c.1449-15C>T	LAS1L	Single nucleotide variant (intron variant)	Wilson-Turner syndrome	GLikely benign
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 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 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 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 1572603	NM_031206.7(LAS1L):c.1860C>T (p.Ala620=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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