"Genome-Nilou Lab"[submitter] AND "ADAMTSL4-AS2"[gene] - ClinVar

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Items: 51

	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

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Items: 51