54507[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
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 292513	NM_019032.6(ADAMTSL4):c.-143C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (5 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GBenign
Select item 292514	NM_019032.6(ADAMTSL4):c.-100G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (5 prime UTR variant)	Ectopia lentis 2, isolated, autosomal recessive	GUncertain significance
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 2014217	NM_019032.6(ADAMTSL4):c.6G>T (p.Glu2Asp)	ADAMTSL4, ADAMTSL4-AS2 (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805128	NM_019032.6(ADAMTSL4):c.9C>G (p.Asn3Lys)	ADAMTSL4, ADAMTSL4-AS2 (N3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946945	NM_019032.6(ADAMTSL4):c.20+13dup	ADAMTSL4, ADAMTSL4-AS2	Duplication (intron variant)	not provided	GBenign
Select item 3000215	NM_019032.6(ADAMTSL4):c.20+12G>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813199	NM_019032.6(ADAMTSL4):c.20+14C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973829	NM_019032.6(ADAMTSL4):c.20+15C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666096	NM_019032.6(ADAMTSL4):c.20+17C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917062	NM_019032.6(ADAMTSL4):c.20+18G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751415	NM_019032.6(ADAMTSL4):c.20+20G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635273	NM_019032.6(ADAMTSL4):c.21-15G>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882073	NM_019032.6(ADAMTSL4):c.21-14C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967116	NM_019032.6(ADAMTSL4):c.21-13C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840903	NM_019032.6(ADAMTSL4):c.21-13C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972844	NM_019032.6(ADAMTSL4):c.21-12T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754661	NM_019032.6(ADAMTSL4):c.21-9G>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999642	NM_019032.6(ADAMTSL4):c.21-8G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881045	NM_019032.6(ADAMTSL4):c.24C>G (p.Pro8=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842124	NM_019032.6(ADAMTSL4):c.26G>A (p.Trp9Ter)	ADAMTSL4, ADAMTSL4-AS2 (W9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2035173	NM_019032.6(ADAMTSL4):c.26G>C (p.Trp9Ser)	ADAMTSL4, ADAMTSL4-AS2 (W9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862281	NM_019032.6(ADAMTSL4):c.30G>A (p.Leu10=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834153	NM_019032.6(ADAMTSL4):c.48G>A (p.Leu16=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118082	NM_019032.6(ADAMTSL4):c.54C>T (p.Leu18=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986937	NM_019032.6(ADAMTSL4):c.55C>T (p.Pro19Ser)	ADAMTSL4, ADAMTSL4-AS2 (P19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763427	NM_019032.6(ADAMTSL4):c.69G>A (p.Leu23=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822789	NM_019032.6(ADAMTSL4):c.72T>C (p.Asp24=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977658	NM_019032.6(ADAMTSL4):c.75G>A (p.Gln25=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135099	NM_019032.6(ADAMTSL4):c.76del (p.Glu26fs)	ADAMTSL4, ADAMTSL4-AS2 (E26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2865688	NM_019032.6(ADAMTSL4):c.78+13C>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560022	NM_019032.6(ADAMTSL4):c.78+13C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966961	NM_019032.6(ADAMTSL4):c.78+20G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842659	NM_019032.6(ADAMTSL4):c.79-20T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2747446	NM_019032.6(ADAMTSL4):c.79-18A>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2039204	NM_019032.6(ADAMTSL4):c.79-17C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608483	NM_019032.6(ADAMTSL4):c.79-17C>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129244	NM_019032.6(ADAMTSL4):c.79-15T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2102704	NM_019032.6(ADAMTSL4):c.79-11T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784887	NM_019032.6(ADAMTSL4):c.79-10C>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2729049	NM_019032.6(ADAMTSL4):c.79-8C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2116302	NM_019032.6(ADAMTSL4):c.79-8C>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765144	NM_019032.6(ADAMTSL4):c.79-7T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969627	NM_019032.6(ADAMTSL4):c.79-6A>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2801305	NM_019032.6(ADAMTSL4):c.79-6del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant +1 more)	not provided	GLikely benign
Select item 39554	NM_019032.6(ADAMTSL4):c.79-1G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (splice acceptor variant)	Ectopia lentis 2, isolated, autosomal recessive	GPathogenic
Select item 3001497	NM_019032.6(ADAMTSL4):c.81G>A (p.Val27=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2978211	NM_019032.6(ADAMTSL4):c.82T>C (p.Leu28=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 292515	NM_019032.6(ADAMTSL4):c.87C>T (p.Ser29=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Ectopia lentis 2, isolated, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 1417323	NM_019032.6(ADAMTSL4):c.94T>A (p.Ser32Thr)	ADAMTSL4, ADAMTSL4-AS2 (S32T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853980	NM_019032.6(ADAMTSL4):c.96dup (p.Leu33fs)	ADAMTSL4, ADAMTSL4-AS2 (L33fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3008828	NM_019032.6(ADAMTSL4):c.96T>C (p.Ser32=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2839832	NM_019032.6(ADAMTSL4):c.105A>T (p.Thr35=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2707811	NM_019032.6(ADAMTSL4):c.105A>G (p.Thr35=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1562709	NM_019032.6(ADAMTSL4):c.108T>A (p.Pro36=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012676	NM_019032.6(ADAMTSL4):c.111A>C (p.Thr37=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986706	NM_019032.6(ADAMTSL4):c.117G>A (p.Glu39=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867763	NM_019032.6(ADAMTSL4):c.120C>A (p.Gly40=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835197	NM_019032.6(ADAMTSL4):c.120C>T (p.Gly40=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387282	NM_019032.6(ADAMTSL4):c.125G>A (p.Gly42Asp)	ADAMTSL4, ADAMTSL4-AS2 (G42D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417577	NM_019032.6(ADAMTSL4):c.129C>T (p.Pro43=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292517	NM_019032.6(ADAMTSL4):c.130G>A (p.Glu44Lys)	ADAMTSL4, ADAMTSL4-AS2 (E44K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2110084	NM_019032.6(ADAMTSL4):c.131A>G (p.Glu44Gly)	ADAMTSL4, ADAMTSL4-AS2 (E44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079546	NM_019032.6(ADAMTSL4):c.134G>A (p.Gly45Asp)	ADAMTSL4, ADAMTSL4-AS2 (G45D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2696666	NM_019032.6(ADAMTSL4):c.136G>A (p.Val46Ile)	ADAMTSL4, ADAMTSL4-AS2 (V46I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033481	NM_019032.6(ADAMTSL4):c.141G>A (p.Trp47Ter)	ADAMTSL4, ADAMTSL4-AS2 (W47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2846982	NM_019032.6(ADAMTSL4):c.159G>A (p.Trp53Ter)	ADAMTSL4, ADAMTSL4-AS2 (W53*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 876192	NM_019032.6(ADAMTSL4):c.162C>T (p.Ala54=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	ADAMTSL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2731693	NM_019032.6(ADAMTSL4):c.172C>T (p.Gln58Ter)	ADAMTSL4, ADAMTSL4-AS2 (Q58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1639571	NM_019032.6(ADAMTSL4):c.180C>T (p.Cys60=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1430550	NM_019032.6(ADAMTSL4):c.181G>A (p.Gly61Arg)	ADAMTSL4, ADAMTSL4-AS2 (G61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403007	NM_019032.6(ADAMTSL4):c.184del (p.Val62fs)	ADAMTSL4, ADAMTSL4-AS2 (V62fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1896389	NM_019032.6(ADAMTSL4):c.183G>A (p.Gly61=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808100	NM_019032.6(ADAMTSL4):c.186G>C (p.Val62=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979284	NM_019032.6(ADAMTSL4):c.189G>C (p.Gly63=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396634	NM_019032.6(ADAMTSL4):c.189G>T (p.Gly63=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2438865	NM_019032.6(ADAMTSL4):c.190G>A (p.Val64Met)	ADAMTSL4, ADAMTSL4-AS2 (V64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796839	NM_019032.6(ADAMTSL4):c.192G>A (p.Val64=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080708	NM_019032.6(ADAMTSL4):c.196C>T (p.Arg66Cys)	ADAMTSL4, ADAMTSL4-AS2 (R66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433731	NM_019032.6(ADAMTSL4):c.197G>A (p.Arg66His)	ADAMTSL4, ADAMTSL4-AS2 (R66H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978492	NM_019032.6(ADAMTSL4):c.205C>T (p.Arg69Trp)	ADAMTSL4, ADAMTSL4-AS2 (R69W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864816	NM_019032.6(ADAMTSL4):c.210A>T (p.Thr70=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841724	NM_019032.6(ADAMTSL4):c.219C>A (p.Leu73=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770659	NM_019032.6(ADAMTSL4):c.228G>A (p.Val76=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1499068	NM_019032.6(ADAMTSL4):c.237C>A (p.His79Gln)	ADAMTSL4, ADAMTSL4-AS2 (H79Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39558	NM_019032.6(ADAMTSL4):c.239del (p.Pro80fs)	ADAMTSL4, ADAMTSL4-AS2 (P80fs)	Deletion (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive	GPathogenic
Select item 1427303	NM_019032.6(ADAMTSL4):c.239C>T (p.Pro80Leu)	ADAMTSL4, ADAMTSL4-AS2 (P80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195653	NM_019032.6(ADAMTSL4):c.240G>A (p.Pro80=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351864	NM_019032.6(ADAMTSL4):c.248C>T (p.Pro83Leu)	ADAMTSL4, ADAMTSL4-AS2 (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609531	NM_019032.6(ADAMTSL4):c.249C>T (p.Pro83=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221250	NM_019032.6(ADAMTSL4):c.251T>C (p.Leu84Pro)	ADAMTSL4, ADAMTSL4-AS2 (L84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944009	NM_019032.6(ADAMTSL4):c.252C>T (p.Leu84=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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