"GeneDx"[submitter] AND "ADAMTSL4-AS2"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1263408	NM_019032.6(ADAMTSL4):c.-84-299dup	ADAMTSL4, ADAMTSL4-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1239113	NM_019032.6(ADAMTSL4):c.-84-299del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1200909	NM_019032.6(ADAMTSL4):c.-84-213G>A	ADAMTSL4, ADAMTSL4-AS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2497863	NM_019032.6(ADAMTSL4):c.-1G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (5 prime UTR variant)	not provided	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 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 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 292521	NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu)	ADAMTSL4, ADAMTSL4-AS2 (P195L)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2412941	NM_019032.6(ADAMTSL4):c.745del (p.Leu249fs)	ADAMTSL4, ADAMTSL4-AS2 (L249fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1379137	NM_019032.6(ADAMTSL4):c.827G>A (p.Arg276His)	ADAMTSL4, ADAMTSL4-AS2 (R276H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 1297248	NM_019032.6(ADAMTSL4):c.1132-54C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662413	NM_019032.6(ADAMTSL4):c.1234+5G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262092	NM_019032.6(ADAMTSL4):c.1234+166T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260005	NM_019032.6(ADAMTSL4):c.1234+349G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298222	NM_019032.6(ADAMTSL4):c.1234+351C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241457	NM_019032.6(ADAMTSL4):c.1234+411G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262447	NM_019032.6(ADAMTSL4):c.1234+448T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235124	NM_019032.6(ADAMTSL4):c.1235-276C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246824	NM_019032.6(ADAMTSL4):c.1235-190C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297249	NM_019032.6(ADAMTSL4):c.1235-183C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237168	NM_019032.6(ADAMTSL4):c.1235-161A>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422966	NM_019032.6(ADAMTSL4):c.1355_1356del (p.Val452fs)	ADAMTSL4, ADAMTSL4-AS2 (V452fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1232246	NM_019032.6(ADAMTSL4):c.1371+50AC[4]	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1187227	NM_019032.6(ADAMTSL4):c.1371+73C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236233	NM_019032.6(ADAMTSL4):c.1371+78AC[6]	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1178126	NM_019032.6(ADAMTSL4):c.1371+78AC[5]	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1234839	NM_019032.6(ADAMTSL4):c.1371+137_1371+138del	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1283836	NM_019032.6(ADAMTSL4):c.1371+155CA[5]	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1278786	NM_019032.6(ADAMTSL4):c.1371+156A>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320627	NM_019032.6(ADAMTSL4):c.1371+166A>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298223	NM_019032.6(ADAMTSL4):c.1371+167C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178125	NM_019032.6(ADAMTSL4):c.1371+169CA[3]	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1265976	NM_019032.6(ADAMTSL4):c.1371+250A>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236790	NM_019032.6(ADAMTSL4):c.1371+268A>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279686	NM_019032.6(ADAMTSL4):c.1371+280_1371+281del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1183877	NM_019032.6(ADAMTSL4):c.1576+43G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723639	NM_019032.6(ADAMTSL4):c.1620G>A (p.Trp540Ter)	ADAMTSL4, ADAMTSL4-AS2 (W540* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1263777	NM_019032.6(ADAMTSL4):c.1749+53_1749+54insAA	ADAMTSL4, ADAMTSL4-AS2	Insertion (intron variant)	not provided	GBenign
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 1274207	NM_019032.6(ADAMTSL4):c.2047+25G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620489	NM_019032.6(ADAMTSL4):c.2087C>A (p.Ser696Ter)	ADAMTSL4, ADAMTSL4-AS2 (S696* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 292544	NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu)	ADAMTSL4, ADAMTSL4-AS2 (S696L +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +2 more	GConflicting classifications of pathogenicity
Select item 874416	NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)	ADAMTSL4-AS2, ADAMTSL4 (A668V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1274585	NM_019032.6(ADAMTSL4):c.2177+56C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 50