ClinVar for MedGen (Select 762100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2193821	NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg)	ADAMTSL4 (G717R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2180304	NM_019032.6(ADAMTSL4):c.1040A>G (p.His347Arg)	ADAMTSL4, ADAMTSL4-AS2 (H347R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2145608	NM_019032.6(ADAMTSL4):c.2276C>T (p.Ser759Phe)	ADAMTSL4 (S720F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2077407	NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser)	ADAMTSL4, ADAMTSL4-AS2 (P199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2070489	NM_019032.6(ADAMTSL4):c.2041G>A (p.Gly681Arg)	ADAMTSL4, ADAMTSL4-AS2 (G642R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2065687	NM_019032.6(ADAMTSL4):c.3155C>T (p.Pro1052Leu)	ADAMTSL4 (P1052L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2053952	NM_019032.6(ADAMTSL4):c.1997C>T (p.Ala666Val)	ADAMTSL4, ADAMTSL4-AS2 (A627V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2044134	NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp)	ADAMTSL4 (N837D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1953256	NM_019032.6(ADAMTSL4):c.1249C>T (p.Arg417Cys)	ADAMTSL4, ADAMTSL4-AS2 (R440C +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1936000	NM_019032.6(ADAMTSL4):c.2980G>A (p.Glu994Lys)	ADAMTSL4 (E1017K +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1922580	NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys)	ADAMTSL4, ADAMTSL4-AS2 (Y453C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1902645	NM_019032.6(ADAMTSL4):c.1859C>T (p.Pro620Leu)	ADAMTSL4, ADAMTSL4-AS2 (P620L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1901284	NM_019032.6(ADAMTSL4):c.2950C>T (p.Arg984Cys)	ADAMTSL4 (R945C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1723643	NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)	ADAMTSL4 (R1016W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1698790	NM_019032.6(ADAMTSL4):c.2493del (p.Ser832fs)	ADAMTSL4 (S793fs +2 more)	Deletion (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive	GLikely pathogenic
Select item 1685502	NM_019032.6(ADAMTSL4):c.950G>A (p.Trp317Ter)	ADAMTSL4-AS2, ADAMTSL4 (W317*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1675160	NM_019032.6(ADAMTSL4):c.1234+3G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	Ectopia lentis 2, isolated, autosomal recessive +1 more	GUncertain significance
Select item 1601344	NM_019032.6(ADAMTSL4):c.2560-14CTC[2]	ADAMTSL4	Microsatellite (intron variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 1580622	NM_019032.6(ADAMTSL4):c.1492C>T (p.Leu498=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1527845	NM_019032.6(ADAMTSL4):c.963_964insT (p.Thr322fs)	ADAMTSL4, ADAMTSL4-AS2 (T322fs)	Insertion (frameshift variant)	Ectopia lentis et pupillae +1 more	GPathogenic
Select item 1515177	NM_019032.6(ADAMTSL4):c.1874T>G (p.Val625Gly)	ADAMTSL4, ADAMTSL4-AS2 (V625G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1506827	NM_019032.6(ADAMTSL4):c.3038G>A (p.Arg1013Gln)	ADAMTSL4, LOC129931410 (R1013Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1503616	NM_019032.6(ADAMTSL4):c.3199G>C (p.Glu1067Gln)	ADAMTSL4 (E1090Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1490549	NM_019032.6(ADAMTSL4):c.455T>A (p.Ile152Asn)	ADAMTSL4, ADAMTSL4-AS2 (I152N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1440298	NM_019032.6(ADAMTSL4):c.1033G>A (p.Gly345Ser)	ADAMTSL4, ADAMTSL4-AS2 (G345S)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1429210	NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu)	ADAMTSL4 (P788L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1423785	NM_019032.6(ADAMTSL4):c.1483G>A (p.Gly495Arg)	ADAMTSL4, ADAMTSL4-AS2 (G518R +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 1408708	NM_019032.6(ADAMTSL4):c.2702G>A (p.Arg901His)	ADAMTSL4 (R862H +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1408599	NM_019032.6(ADAMTSL4):c.748C>T (p.Arg250Trp)	ADAMTSL4, ADAMTSL4-AS2 (R250W)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1404575	NM_019032.6(ADAMTSL4):c.2758G>A (p.Gly920Ser)	ADAMTSL4 (G920S +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 1404163	NM_019032.6(ADAMTSL4):c.2021_2022del (p.Ser674fs)	ADAMTSL4-AS2, ADAMTSL4 (S635fs +2 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1396637	NM_019032.6(ADAMTSL4):c.2354A>G (p.His785Arg)	ADAMTSL4 (H808R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1391151	NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)	ADAMTSL4, ADAMTSL4-AS2 (E382fs)	Deletion (frameshift variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1370805	NM_019032.6(ADAMTSL4):c.1957G>A (p.Ala653Thr)	ADAMTSL4-AS2, ADAMTSL4 (A676T +1 more)	Single nucleotide variant (missense variant +1 more)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1370270	NM_019032.6(ADAMTSL4):c.2978G>A (p.Arg993Gln)	ADAMTSL4 (R993Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1368331	NM_019032.6(ADAMTSL4):c.3148G>A (p.Val1050Ile)	ADAMTSL4 (V1050I +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1365269	NM_019032.6(ADAMTSL4):c.2687G>A (p.Arg896Gln)	ADAMTSL4 (R919Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1349227	NM_019032.6(ADAMTSL4):c.2425C>T (p.Arg809Cys)	ADAMTSL4 (R809C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1323859	NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs)	ADAMTSL4 (G718fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1241300	NM_019032.6(ADAMTSL4):c.2943+17G>A	ADAMTSL4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 992534	NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys)	ADAMTSL4 (R742C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 876461	NM_019032.6(ADAMTSL4):c.3178C>G (p.Arg1060Gly)	ADAMTSL4 (R1083G +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GBenign/Likely benign
Select item 876460	NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His)	ADAMTSL4, LOC129931410 (R989H +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GBenign/Likely benign
Select item 876459	NM_019032.6(ADAMTSL4):c.3078C>G (p.Ser1026Arg)	ADAMTSL4, LOC129931410 (S1026R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 876408	NM_019032.6(ADAMTSL4):c.2559+8C>T	ADAMTSL4 (P856L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876407	NM_019032.6(ADAMTSL4):c.2483C>T (p.Pro828Leu)	ADAMTSL4 (P828L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 876406	NM_019032.6(ADAMTSL4):c.2457C>T (p.Ser819=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876369	NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu)	ADAMTSL4, ADAMTSL4-AS2 (P654L +1 more)	Single nucleotide variant (missense variant +1 more)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 876368	NM_019032.6(ADAMTSL4):c.1683C>T (p.Pro561=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876367	NM_019032.6(ADAMTSL4):c.1676G>A (p.Arg559His)	ADAMTSL4, ADAMTSL4-AS2 (R559H +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 876332	NM_019032.6(ADAMTSL4):c.569G>T (p.Gly190Val)	ADAMTSL4, ADAMTSL4-AS2 (G190V)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 876247	NM_019032.6(ADAMTSL4):c.1577-5C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876246	NM_019032.6(ADAMTSL4):c.1551G>C (p.Gln517His)	ADAMTSL4, ADAMTSL4-AS2 (Q540H +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 876245	NM_019032.6(ADAMTSL4):c.1419C>T (p.Gly473=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876244	NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala)	ADAMTSL4, ADAMTSL4-AS2 (G463A +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 876243	NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile)	ADAMTSL4, ADAMTSL4-AS2 (T434I +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 876194	NM_019032.6(ADAMTSL4):c.420T>C (p.Ile140=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 876193	NM_019032.6(ADAMTSL4):c.292C>T (p.Arg98Trp)	ADAMTSL4, ADAMTSL4-AS2 (R98W)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 876192	NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 875436	NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln)	ADAMTSL4 (R1030Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 875435	NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln)	ADAMTSL4 (R996Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 875377	NM_019032.6(ADAMTSL4):c.2312G>A (p.Arg771Gln)	ADAMTSL4 (R732Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875376	NM_019032.6(ADAMTSL4):c.2311C>T (p.Arg771Trp)	ADAMTSL4 (R771W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875375	NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys)	ADAMTSL4 (R788C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875328	NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu)	ADAMTSL4 (S721L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 875327	NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp)	ADAMTSL4 (R751W +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 875326	NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)	ADAMTSL4 (R707C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 875325	NM_019032.6(ADAMTSL4):c.2157C>T (p.His719=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 875285	NM_019032.6(ADAMTSL4):c.1186T>C (p.Ser396Pro)	ADAMTSL4, ADAMTSL4-AS2 (S396P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875284	NM_019032.6(ADAMTSL4):c.1179C>T (p.Ala393=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GBenign/Likely benign
Select item 875283	NM_019032.6(ADAMTSL4):c.1160G>A (p.Arg387Gln)	ADAMTSL4, ADAMTSL4-AS2 (R387Q)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 875282	NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg)	ADAMTSL4, ADAMTSL4-AS2 (P381R)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 875231	NM_019032.6(ADAMTSL4):c.-236C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (5 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 874509	NM_019032.6(ADAMTSL4):c.2849C>T (p.Pro950Leu)	ADAMTSL4 (P911L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 874508	NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser)	ADAMTSL4 (P973S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874507	NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met)	ADAMTSL4 (V908M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874506	NM_019032.6(ADAMTSL4):c.2763+12G>A	ADAMTSL4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 874505	NM_019032.6(ADAMTSL4):c.2737C>T (p.Arg913Cys)	ADAMTSL4 (R874C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 874460	NM_019032.6(ADAMTSL4):c.2704G>A (p.Ala902Thr)	ADAMTSL4 (A863T +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GBenign/Likely benign
Select item 874459	NM_019032.6(ADAMTSL4):c.2691C>G (p.Pro897=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874458	NM_019032.6(ADAMTSL4):c.2640G>A (p.Gln880=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874457	NM_019032.6(ADAMTSL4):c.2625C>T (p.Ala875=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874456	NM_019032.6(ADAMTSL4):c.2560-5C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874416	NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)	ADAMTSL4, ADAMTSL4-AS2 (A668V +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 874415	NM_019032.6(ADAMTSL4):c.2107C>T (p.Arg703Cys)	ADAMTSL4, ADAMTSL4-AS2 (R703C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 874414	NM_019032.6(ADAMTSL4):c.2080C>T (p.Arg694Cys)	ADAMTSL4, ADAMTSL4-AS2 (R655C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874413	NM_019032.6(ADAMTSL4):c.1994C>T (p.Ala665Val)	ADAMTSL4, ADAMTSL4-AS2 (A688V +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 874363	NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu)	ADAMTSL4, ADAMTSL4-AS2 (A377E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874362	NM_019032.6(ADAMTSL4):c.1000C>G (p.His334Asp)	ADAMTSL4, ADAMTSL4-AS2 (H334D)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 873564	NM_019032.6(ADAMTSL4):c.*639C>G	ADAMTSL4, LOC129931411	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 873563	NM_019032.6(ADAMTSL4):c.*439C>T	ADAMTSL4	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 873562	NM_019032.6(ADAMTSL4):c.*305G>A	ADAMTSL4	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 827969	NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys)	ADAMTSL4 (N775K +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 746274	NM_019032.6(ADAMTSL4):c.2190C>T (p.Gly730=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 724482	NM_019032.6(ADAMTSL4):c.2040C>T (p.Cys680=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	ADAMTSL4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 717808	NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe)	ADAMTSL4, ADAMTSL4-AS2 (S268F)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GBenign/Likely benign
Select item 691918	NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter)	ADAMTSL4, ADAMTSL4-AS2 (R556* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 634507	NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met)	ADAMTSL4, ADAMTSL4-AS2 (V646M +1 more)	Single nucleotide variant (missense variant +1 more)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 632082	NM_019032.6(ADAMTSL4):c.1659del (p.Val554fs)	ADAMTSL4, ADAMTSL4-AS2 (V554fs +1 more)	Deletion (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
Select item 632081	NM_019032.6(ADAMTSL4):c.1372-5_1372-2del	ADAMTSL4, ADAMTSL4-AS2	Deletion (splice acceptor variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance

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