"Genome-Nilou Lab"[submitter] AND "ADAMTSL4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292516	NM_019032.6(ADAMTSL4):c.88G>A (p.Gly30Arg)	ADAMTSL4, ADAMTSL4-AS2 (G30R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 292517	NM_019032.6(ADAMTSL4):c.130G>A (p.Glu44Lys)	ADAMTSL4, ADAMTSL4-AS2 (E44K)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GBenign
Select item 292518	NM_019032.6(ADAMTSL4):c.232C>T (p.Leu78Phe)	ADAMTSL4, ADAMTSL4-AS2 (L78F)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 392464	NM_019032.6(ADAMTSL4):c.421C>T (p.Arg141Ter)	ADAMTSL4, ADAMTSL4-AS2 (R141*)	Single nucleotide variant (nonsense)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GPathogenic
Select item 1490549	NM_019032.6(ADAMTSL4):c.455T>A (p.Ile152Asn)	ADAMTSL4, ADAMTSL4-AS2 (I152N)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 292519	NM_019032.6(ADAMTSL4):c.514C>T (p.Arg172Cys)	ADAMTSL4, ADAMTSL4-AS2 (R172C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 261079	NM_019032.6(ADAMTSL4):c.577G>C (p.Ala193Pro)	ADAMTSL4, ADAMTSL4-AS2 (A193P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2077407	NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser)	ADAMTSL4, ADAMTSL4-AS2 (P199S)	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)	not provided +3 more	GUncertain significance
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4, ADAMTSL4-AS2 (Q256fs)	Deletion	Ectopia lentis 2, isolated, autosomal recessive +3 more	GPathogenic
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 292523	NM_019032.6(ADAMTSL4):c.920G>A (p.Arg307Gln)	ADAMTSL4, ADAMTSL4-AS2 (R307Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 292524	NM_019032.6(ADAMTSL4):c.926G>A (p.Arg309Gln)	ADAMTSL4, ADAMTSL4-AS2 (R309Q)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GBenign
Select item 261080	NM_019032.6(ADAMTSL4):c.939C>T (p.Gly313=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 292525	NM_019032.6(ADAMTSL4):c.1007G>A (p.Gly336Asp)	ADAMTSL4, ADAMTSL4-AS2 (G336D)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 292526	NM_019032.6(ADAMTSL4):c.1009G>A (p.Ala337Thr)	ADAMTSL4, ADAMTSL4-AS2 (A337T)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +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 et pupillae +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 261075	NM_019032.6(ADAMTSL4):c.1098G>A (p.Gly366=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 292528	NM_019032.6(ADAMTSL4):c.1118C>A (p.Ala373Asp)	ADAMTSL4, ADAMTSL4-AS2 (A373D)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 874363	NM_019032.6(ADAMTSL4):c.1130C>A (p.Ala377Glu)	ADAMTSL4, ADAMTSL4-AS2 (A377E)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 292529	NM_019032.6(ADAMTSL4):c.1131G>A (p.Ala377=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous 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)	Ectopia lentis et pupillae +3 more	GPathogenic/Likely pathogenic
Select item 292531	NM_019032.6(ADAMTSL4):c.1159C>G (p.Arg387Gly)	ADAMTSL4, ADAMTSL4-AS2 (R387G)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 875284	NM_019032.6(ADAMTSL4):c.1179C>T (p.Ala393=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 292532	NM_019032.6(ADAMTSL4):c.1268G>A (p.Arg423Gln)	ADAMTSL4, ADAMTSL4-AS2 (R423Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1922580	NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys)	ADAMTSL4, ADAMTSL4-AS2 (Y453C +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GConflicting classifications of pathogenicity
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 626057	NM_019032.6(ADAMTSL4):c.1378G>A (p.Gly460Ser)	ADAMTSL4, ADAMTSL4-AS2 (G460S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 876244	NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala)	ADAMTSL4-AS2, ADAMTSL4 (G463A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292533	NM_019032.6(ADAMTSL4):c.1464G>A (p.Ser488=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis et pupillae +2 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 1580622	NM_019032.6(ADAMTSL4):c.1492C>T (p.Leu498=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GLikely benign
Select item 292534	NM_019032.6(ADAMTSL4):c.1534C>T (p.Arg512Trp)	ADAMTSL4-AS2, ADAMTSL4 (R512W +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 292535	NM_019032.6(ADAMTSL4):c.1555C>T (p.Arg519Trp)	ADAMTSL4, ADAMTSL4-AS2 (R519W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 292538	NM_019032.6(ADAMTSL4):c.1777G>A (p.Val593Ile)	ADAMTSL4, ADAMTSL4-AS2 (V593I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 292539	NM_019032.6(ADAMTSL4):c.1860G>A (p.Pro620=)	ADAMTSL4-AS2, ADAMTSL4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 292540	NM_019032.6(ADAMTSL4):c.1861+13C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 876369	NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu)	ADAMTSL4, ADAMTSL4-AS2 (P654L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1370805	NM_019032.6(ADAMTSL4):c.1957G>A (p.Ala653Thr)	ADAMTSL4, ADAMTSL4-AS2 (A676T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 39557	NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	ADAMTSL4-AS2, ADAMTSL4 (R670* +2 more)	Single nucleotide variant (nonsense)	Ectopia lentis et pupillae +2 more	GPathogenic/Likely pathogenic
Select item 1404163	NM_019032.6(ADAMTSL4):c.2021_2022del (p.Ser674fs)	ADAMTSL4, ADAMTSL4-AS2 (S635fs +2 more)	Microsatellite (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 2070489	NM_019032.6(ADAMTSL4):c.2041G>A (p.Gly681Arg)	ADAMTSL4, ADAMTSL4-AS2 (G642R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +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)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 874415	NM_019032.6(ADAMTSL4):c.2107C>T (p.Arg703Cys)	ADAMTSL4, ADAMTSL4-AS2 (R703C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 292545	NM_019032.6(ADAMTSL4):c.2121G>A (p.Ala707=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis et pupillae +2 more	GConflicting classifications of pathogenicity
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 +3 more	GConflicting classifications of pathogenicity
Select item 875327	NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp)	ADAMTSL4 (R751W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 39559	NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs)	ADAMTSL4 (G719fs +2 more)	Duplication (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GPathogenic
Select item 1323859	NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs)	ADAMTSL4 (G718fs +2 more)	Deletion (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 2193821	NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg)	ADAMTSL4 (G717R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +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)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 875328	NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu)	ADAMTSL4 (S721L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292549	NM_019032.6(ADAMTSL4):c.2288C>G (p.Pro763Arg)	ADAMTSL4 (P763R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 875375	NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys)	ADAMTSL4 (R788C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292551	NM_019032.6(ADAMTSL4):c.2305C>G (p.Leu769Val)	ADAMTSL4 (L769V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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	GConflicting classifications of pathogenicity
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 992534	NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys)	ADAMTSL4 (R742C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 1396637	NM_019032.6(ADAMTSL4):c.2354A>G (p.His785Arg)	ADAMTSL4 (H808R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 292552	NM_019032.6(ADAMTSL4):c.2392C>T (p.Arg798Trp)	ADAMTSL4 (R798W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1349227	NM_019032.6(ADAMTSL4):c.2425C>T (p.Arg809Cys)	ADAMTSL4 (R809C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 292553	NM_019032.6(ADAMTSL4):c.2427C>T (p.Arg809=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2044134	NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp)	ADAMTSL4 (N837D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	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 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 261076	NM_019032.6(ADAMTSL4):c.2442T>C (p.Asn814=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1429210	NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu)	ADAMTSL4 (P788L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 261077	NM_019032.6(ADAMTSL4):c.2484G>A (p.Pro828=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 292554	NM_019032.6(ADAMTSL4):c.2512A>G (p.Met838Val)	ADAMTSL4 (M838V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 517011	NM_019032.6(ADAMTSL4):c.2559+45C>T	ADAMTSL4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1188860	NM_019032.6(ADAMTSL4):c.2560-58T>C	ADAMTSL4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 292556	NM_019032.6(ADAMTSL4):c.2580G>A (p.Thr860=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 292557	NM_019032.6(ADAMTSL4):c.2591G>A (p.Arg864Gln)	ADAMTSL4 (R864Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 381746	NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)	ADAMTSL4 (R865H +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GPathogenic/Likely pathogenic
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 1408708	NM_019032.6(ADAMTSL4):c.2702G>A (p.Arg901His)	ADAMTSL4 (R862H +2 more)	Single nucleotide variant (missense variant)	not provided +3 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 et pupillae +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 1404575	NM_019032.6(ADAMTSL4):c.2758G>A (p.Gly920Ser)	ADAMTSL4 (G920S +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 874506	NM_019032.6(ADAMTSL4):c.2763+12G>A	ADAMTSL4	Single nucleotide variant (intron variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 292559	NM_019032.6(ADAMTSL4):c.2795G>A (p.Arg932His)	ADAMTSL4 (R932H +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 292560	NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	Ectopia lentis et pupillae +2 more	GBenign/Likely benign
Select item 874507	NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met)	ADAMTSL4 (V908M +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GUncertain significance
Select item 874508	NM_019032.6(ADAMTSL4):c.2848C>T (p.Pro950Ser)	ADAMTSL4 (P973S +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	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 et pupillae +3 more	GUncertain significance
Select item 261078	NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp)	ADAMTSL4 (A969D +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GBenign/Likely benign
Select item 875435	NM_019032.6(ADAMTSL4):c.2918G>A (p.Arg973Gln)	ADAMTSL4 (R996Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1241300	NM_019032.6(ADAMTSL4):c.2943+17G>A	ADAMTSL4	Single nucleotide variant (intron variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GBenign
Select item 1901284	NM_019032.6(ADAMTSL4):c.2950C>T (p.Arg984Cys)	ADAMTSL4 (R945C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 292564	NM_019032.6(ADAMTSL4):c.2963G>C (p.Gly988Ala)	ADAMTSL4 (G988A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723643	NM_019032.6(ADAMTSL4):c.2977C>T (p.Arg993Trp)	ADAMTSL4 (R1016W +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +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)	Inborn genetic diseases +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 875436	NM_019032.6(ADAMTSL4):c.3020G>A (p.Arg1007Gln)	ADAMTSL4 (R1030Q +2 more)	Single nucleotide variant (missense variant)	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)	ADAMTSL4-related disorder +3 more	GUncertain significance

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