"GeneDx"[submitter] AND "ARSL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58554	GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3	AKAP17A, ARSD +56 more	Copy number gain	See cases	GPathogenic
Select item 146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	AKAP17A, ARSD +87 more	Copy number loss	See cases	GPathogenic
Select item 59205	GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0	ANOS1, ARSD +81 more	Copy number loss	See cases	GPathogenic
Select item 1288825	NM_000047.3(ARSL):c.*274G>C	ARSL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1262206	NM_000047.3(ARSL):c.*271G>A	ARSL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1272237	NM_000047.3(ARSL):c.*167T>C	ARSL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 11529	NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	ARSL (W581* +3 more)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GPathogenic/Likely pathogenic
Select item 157731	NM_000047.3(ARSL):c.1728G>A (p.Pro576=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GBenign
Select item 279692	NM_000047.3(ARSL):c.1711C>T (p.Gln571Ter)	ARSL (Q571* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 157730	NM_000047.3(ARSL):c.1692C>T (p.Asn564=)	ARSL	Single nucleotide variant (synonymous variant)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 388640	NM_000047.3(ARSL):c.1686G>C (p.Leu562=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GLikely benign
Select item 917686	NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys)	ARSL (Q558K +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GUncertain significance
Select item 1343899	NM_000047.3(ARSL):c.1550C>T (p.Ser517Leu)	ARSL (S463L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3252947	NM_000047.3(ARSL):c.1545C>G (p.Asp515Glu)	ARSL (D461E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266830	NM_000047.3(ARSL):c.1412-52C>T	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 703344	NM_000047.3(ARSL):c.1408G>C (p.Asp470His)	ARSL (D470H +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GBenign
Select item 430164	NM_000047.3(ARSL):c.1387G>A (p.Ala463Thr)	ARSL (A463T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 279691	NM_000047.3(ARSL):c.1300G>A (p.Gly434Ser)	ARSL (G434S +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1189999	NM_000047.3(ARSL):c.1290-45G>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669801	NM_000047.3(ARSL):c.1290-271C>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669797	NM_000047.3(ARSL):c.1290-295A>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250860	NM_000047.3(ARSL):c.1289+298A>C	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215991	NM_000047.3(ARSL):c.1289+270A>G	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515994	NM_000047.3(ARSL):c.1289+6G>C	ARSL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 157728	NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)	ARSL (G424S +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 3369643	NM_000047.3(ARSL):c.1226C>G (p.Thr409Arg)	ARSL (T355R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580696	NM_000047.3(ARSL):c.1226C>T (p.Thr409Met)	ARSL (T355M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1683184	NM_000047.3(ARSL):c.1199C>T (p.Pro400Leu)	ARSL (P346L +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 1175208	NM_000047.3(ARSL):c.1127-141GA[10]	ARSL	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1193106	NM_000047.3(ARSL):c.1127-141GA[8]	ARSL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1305431	NM_000047.3(ARSL):c.1098G>C (p.Gln366His)	ARSL (Q312H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203588	NM_000047.3(ARSL):c.1052C>T (p.Thr351Met)	ARSL (T297M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429485	NM_000047.3(ARSL):c.994C>T (p.Arg332Trp)	ARSL (R332W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667510	NM_000047.3(ARSL):c.992-219C>G	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289752	NM_000047.3(ARSL):c.992-224T>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202354	NM_000047.3(ARSL):c.991+312T>C	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213614	NM_000047.3(ARSL):c.991+193C>T	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 546146	NM_000047.3(ARSL):c.977T>C (p.Met326Thr)	ARSL (M326T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1196672	NM_000047.3(ARSL):c.855-212dup	ARSL	Duplication (intron variant)	not provided	GLikely benign
Select item 1272541	NM_000047.3(ARSL):c.855-189del	ARSL	Deletion (intron variant)	not provided	GBenign
Select item 1269696	NM_000047.3(ARSL):c.855-196_855-189del	ARSL	Deletion (intron variant)	not provided	GBenign
Select item 1236668	NM_000047.3(ARSL):c.855-197_855-189del	ARSL	Deletion (intron variant)	not provided	GBenign
Select item 1183276	NM_000047.3(ARSL):c.855-195_855-189del	ARSL	Deletion (intron variant)	not provided	GBenign
Select item 1291383	NM_000047.3(ARSL):c.854+303G>T	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223180	NM_000047.3(ARSL):c.854+166G>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200861	NM_000047.3(ARSL):c.854G>A (p.Arg285Lys)	ARSL (R231K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 702442	NM_000047.3(ARSL):c.840G>A (p.Ala280=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GBenign/Likely benign
Select item 157736	NM_000047.3(ARSL):c.786G>A (p.Thr262=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GBenign
Select item 235491	NM_000047.3(ARSL):c.775C>G (p.His259Asp)	ARSL (H259D +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +2 more	GBenign/Likely benign
Select item 373588	NM_000047.3(ARSL):c.752C>T (p.Ala251Val)	ARSL (A251V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 766781	NM_000047.3(ARSL):c.714C>T (p.Leu238=)	ARSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 157735	NM_000047.3(ARSL):c.549C>T (p.Arg183=)	ARSL	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GBenign
Select item 157734	NM_000047.3(ARSL):c.548G>A (p.Arg183His)	ARSL (R183H +3 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 3340838	NM_000047.3(ARSL):c.520C>A (p.Pro174Thr)	ARSL (P120T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620348	NM_000047.3(ARSL):c.513C>A (p.Tyr171Ter)	ARSL (Y171* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 516293	NM_000047.3(ARSL):c.495T>C (p.His165=)	ARSL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1723854	NM_000047.3(ARSL):c.463G>A (p.Ala155Thr)	ARSL (A101T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279710	NM_000047.3(ARSL):c.430+173C>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226751	NM_000047.3(ARSL):c.430+138T>C	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513003	NM_000047.3(ARSL):c.430+8C>T	ARSL	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign
Select item 21033	NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	ARSL (G137A +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +4 more	GConflicting classifications of pathogenicity
Select item 11523	NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	ARSL (G117R +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +1 more	GPathogenic/Likely pathogenic
Select item 157732	NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)	ARSL (L113F +3 more)	Single nucleotide variant (missense variant)	X-linked chondrodysplasia punctata 1 +1 more	GConflicting classifications of pathogenicity
Select item 372304	NM_000047.3(ARSL):c.332G>A (p.Arg111His)	ARSL (R111H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 427005	NM_000047.3(ARSL):c.331C>T (p.Arg111Cys)	ARSL (R111C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1218117	NM_000047.3(ARSL):c.308-146G>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222071	NM_000047.3(ARSL):c.308-168C>T	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233428	NM_000047.3(ARSL):c.308-225A>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672770	NM_000047.3(ARSL):c.307+209C>T	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669785	NM_000047.3(ARSL):c.307+144T>G	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188587	NM_000047.3(ARSL):c.307+101A>C	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3365335	NM_000047.3(ARSL):c.302G>A (p.Arg101Gln)	ARSL (R101Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772428	NM_000047.3(ARSL):c.220G>A (p.Val74Met)	ARSL (V83M +3 more)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata, brachytelephalangic, autosomal +1 more	GBenign
Select item 1183704	NM_000047.3(ARSL):c.186-267G>T	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218917	NM_000047.3(ARSL):c.186-320A>G	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213622	NM_000047.3(ARSL):c.185+266G>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260553	NM_000047.3(ARSL):c.185+125G>T	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675178	NM_000047.3(ARSL):c.185+101A>G	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507202	NM_000047.3(ARSL):c.185G>T (p.Arg62Met)	ARSL (R62M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500374	NM_000047.3(ARSL):c.181A>G (p.Met61Val)	ARSL (M61V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 157729	NM_000047.3(ARSL):c.157A>G (p.Ile53Val)	ARSL (I53V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1 +4 more	GBenign
Select item 3061290	NM_000047.3(ARSL):c.139G>T (p.Asp47Tyr)	ARSL (D47Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503608	NM_000047.3(ARSL):c.123TCT[1] (p.Leu43del)	ARSL (L43del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GPathogenic
Select item 3343121	NM_000047.3(ARSL):c.118A>T (p.Ile40Phe)	ARSL (I40F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 157737	NM_000047.3(ARSL):c.78A>G (p.Ala26=)	ARSL	Single nucleotide variant (synonymous variant +1 more)	X-linked chondrodysplasia punctata 1 +3 more	GBenign
Select item 1683210	NM_000047.3(ARSL):c.24-1G>A	ARSL	Single nucleotide variant (splice acceptor variant +1 more)	Chondrodysplasia punctata, brachytelephalangic, autosomal +2 more	GConflicting classifications of pathogenicity
Select item 2694715	NM_000047.3(ARSL):c.24-2A>G	ARSL	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1192478	NM_000047.3(ARSL):c.24-26C>T	ARSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210727	NM_000047.3(ARSL):c.24-206C>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279880	NM_000047.3(ARSL):c.24-207C>A	ARSL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212082	NM_000047.3(ARSL):c.23+969C>T	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673897	NM_000047.3(ARSL):c.23+931G>T	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 993979	NM_000047.3(ARSL):c.23+687G>A	ARSL (V4M)	Single nucleotide variant (missense variant +1 more)	X-linked chondrodysplasia punctata 1 +1 more	GBenign
Select item 674716	NM_000047.3(ARSL):c.23+584C>T	ARSL	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1268163	NM_000047.3(ARSL):c.23+543A>G	ARSL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1294194	NM_000047.3(ARSL):c.23+413TTCT[7]	ARSL	Microsatellite (intron variant)	not provided	GBenign
Select item 1270732	NM_000047.3(ARSL):c.23+413TTCT[4]	ARSL	Microsatellite (intron variant)	not provided	GBenign
Select item 1231473	NM_000047.3(ARSL):c.23+413TTCT[5]	ARSL	Microsatellite (intron variant)	not provided	GBenign
Select item 673896	NM_000047.3(ARSL):c.23+353A>C	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673895	NM_000047.3(ARSL):c.23+343G>A	ARSL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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