ClinVar for Gene (Select 54507) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234552	NM_019032.6(ADAMTSL4):c.1675C>T (p.Arg559Cys)	ADAMTSL4, ADAMTSL4-AS2 (R559C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3079815	NM_019032.6(ADAMTSL4):c.850C>T (p.Pro284Ser)	ADAMTSL4, ADAMTSL4-AS2 (P284S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079798	NM_019032.6(ADAMTSL4):c.676C>A (p.Pro226Thr)	ADAMTSL4, ADAMTSL4-AS2 (P226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079782	NM_019032.6(ADAMTSL4):c.567A>C (p.Arg189Ser)	ADAMTSL4, ADAMTSL4-AS2 (R189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079765	NM_019032.6(ADAMTSL4):c.356G>A (p.Arg119Gln)	ADAMTSL4, ADAMTSL4-AS2 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079756	NM_019032.6(ADAMTSL4):c.3140G>A (p.Arg1047Gln)	ADAMTSL4 (R1047Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079677	NM_019032.6(ADAMTSL4):c.2441A>C (p.Asn814Thr)	ADAMTSL4 (N775T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079645	NM_019032.6(ADAMTSL4):c.2308C>T (p.Pro770Ser)	ADAMTSL4 (P793S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079616	NM_019032.6(ADAMTSL4):c.2080C>G (p.Arg694Gly)	ADAMTSL4, ADAMTSL4-AS2 (R655G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079587	NM_019032.6(ADAMTSL4):c.1768A>T (p.Asn590Tyr)	ADAMTSL4, ADAMTSL4-AS2 (N590Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079572	NM_019032.6(ADAMTSL4):c.1624G>A (p.Val542Met)	ADAMTSL4, ADAMTSL4-AS2 (V565M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079565	NM_019032.6(ADAMTSL4):c.1561A>G (p.Ser521Gly)	ADAMTSL4, ADAMTSL4-AS2 (S521G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079551	NM_019032.6(ADAMTSL4):c.1363C>T (p.Arg455Cys)	ADAMTSL4, ADAMTSL4-AS2 (R455C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3079533	NM_019032.6(ADAMTSL4):c.1273C>T (p.Arg425Cys)	ADAMTSL4, ADAMTSL4-AS2 (R448C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076001	NM_019032.6(ADAMTSL4):c.1786C>T (p.Gln596Ter)	ADAMTSL4, ADAMTSL4-AS2 (Q596* +1 more)	Single nucleotide variant (nonsense)	Isolated ectopia lentis	GPathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3061333	NM_019032.6(ADAMTSL4):c.1089A>G (p.Arg363=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	ADAMTSL4-related condition	GUncertain significance
Select item 3061217	NM_019032.6(ADAMTSL4):c.2559+45_2559+48delinsTG	ADAMTSL4 (Q870fs)	Indel (frameshift variant +1 more)	ADAMTSL4-related condition	GUncertain significance
Select item 3058111	NM_019032.6(ADAMTSL4):c.1234+176T>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	ADAMTSL4-related condition	GLikely benign
Select item 3040086	NM_019032.6(ADAMTSL4):c.2574T>C (p.Cys858=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	ADAMTSL4-related condition	GLikely benign
Select item 3039830	NM_019032.6(ADAMTSL4):c.1234+117G>A	ADAMTSL4, ADAMTSL4-AS2 (R418H)	Single nucleotide variant (non-coding transcript variant +2 more)	ADAMTSL4-related condition	GLikely benign
Select item 3023668	NM_019032.6(ADAMTSL4):c.471C>T (p.Phe157=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021193	NM_019032.6(ADAMTSL4):c.1980C>T (p.Pro660=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019428	NM_019032.6(ADAMTSL4):c.1446T>C (p.Ser482=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017788	NM_019032.6(ADAMTSL4):c.477T>G (p.Tyr159Ter)	ADAMTSL4, ADAMTSL4-AS2 (Y159*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3015605	NM_019032.6(ADAMTSL4):c.1531T>C (p.Leu511=)	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 3011908	NM_019032.6(ADAMTSL4):c.2028C>T (p.Cys676=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011298	NM_019032.6(ADAMTSL4):c.2742G>A (p.Trp914Ter)	ADAMTSL4 (W914* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3008939	NM_019032.6(ADAMTSL4):c.1577-5dup	ADAMTSL4, ADAMTSL4-AS2	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3008692	NM_019032.6(ADAMTSL4):c.2763+2T>G	ADAMTSL4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3007757	NM_019032.6(ADAMTSL4):c.2048-16C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006110	NM_019032.6(ADAMTSL4):c.1131+20C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005845	NM_019032.6(ADAMTSL4):c.1235-15T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005423	NM_019032.6(ADAMTSL4):c.1998G>T (p.Ala666=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005365	NM_019032.6(ADAMTSL4):c.1749+15A>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004930	NM_019032.6(ADAMTSL4):c.1656G>A (p.Gly552=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3004391	NM_019032.6(ADAMTSL4):c.2763+16G>A	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004229	NM_019032.6(ADAMTSL4):c.2022T>C (p.Ser674=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3001468	NM_019032.6(ADAMTSL4):c.2177+13del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant)	not provided	GBenign
Select item 3001046	NM_019032.6(ADAMTSL4):c.2568C>T (p.Ala856=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2999642	NM_019032.6(ADAMTSL4):c.21-8G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999469	NM_019032.6(ADAMTSL4):c.285C>T (p.Leu95=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999278	NM_019032.6(ADAMTSL4):c.2280G>A (p.Ser760=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998022	NM_019032.6(ADAMTSL4):c.2814A>G (p.Val938=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997554	NM_019032.6(ADAMTSL4):c.2383-1G>A	ADAMTSL4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2997342	NM_019032.6(ADAMTSL4):c.2944-14_2944-11del	ADAMTSL4	Deletion (intron variant)	not provided	GLikely benign
Select item 2994651	NM_019032.6(ADAMTSL4):c.2592G>T (p.Arg864=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993181	NM_019032.6(ADAMTSL4):c.723C>T (p.Ala241=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992596	NM_019032.6(ADAMTSL4):c.3096A>G (p.Gln1032=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992327	NM_019032.6(ADAMTSL4):c.2382+16C>G	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992122	NM_019032.6(ADAMTSL4):c.2177+17C>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992062	NM_019032.6(ADAMTSL4):c.2493C>G (p.Pro831=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991434	NM_019032.6(ADAMTSL4):c.552C>T (p.Ser184=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991345	NM_019032.6(ADAMTSL4):c.2383-5C>G	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991209	NM_019032.6(ADAMTSL4):c.2764-14T>C	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990973	NM_019032.6(ADAMTSL4):c.2764-13C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990156	NM_019032.6(ADAMTSL4):c.495A>G (p.Ala165=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988702	NM_019032.6(ADAMTSL4):c.3162C>T (p.Tyr1054=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988182	NM_019032.6(ADAMTSL4):c.1371+16G>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron 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 2985919	NM_019032.6(ADAMTSL4):c.1056G>A (p.Trp352Ter)	ADAMTSL4, ADAMTSL4-AS2 (W352*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2985846	NM_019032.6(ADAMTSL4):c.2178-6C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985277	NM_019032.6(ADAMTSL4):c.3195C>T (p.Val1065=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984781	NM_019032.6(ADAMTSL4):c.2493dup (p.Ser832fs)	ADAMTSL4 (S855fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2984578	NM_019032.6(ADAMTSL4):c.2180G>A (p.Trp727Ter)	ADAMTSL4 (W688* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2984512	NM_019032.6(ADAMTSL4):c.2943+15G>A	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984305	NM_019032.6(ADAMTSL4):c.2649A>G (p.Ala883=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984287	NM_019032.6(ADAMTSL4):c.2943+16C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983491	NM_019032.6(ADAMTSL4):c.2730A>G (p.Arg910=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983011	NM_019032.6(ADAMTSL4):c.3088+9C>G	ADAMTSL4, LOC129931410	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982632	NM_019032.6(ADAMTSL4):c.441G>A (p.Arg147=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981486	NM_019032.6(ADAMTSL4):c.2727G>A (p.Glu909=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980458	NM_019032.6(ADAMTSL4):c.1372-7T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2979326	NM_019032.6(ADAMTSL4):c.2178-17C>T	ADAMTSL4	Single nucleotide variant (intron 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 2979185	NM_019032.6(ADAMTSL4):c.1209G>C (p.Leu403=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979021	NM_019032.6(ADAMTSL4):c.2763+11C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978485	NM_019032.6(ADAMTSL4):c.2586C>T (p.Ile862=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	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 2977658	NM_019032.6(ADAMTSL4):c.75G>A (p.Gln25=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976872	NM_019032.6(ADAMTSL4):c.1545T>A (p.Ile515=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976751	NM_019032.6(ADAMTSL4):c.2382+18A>G	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976426	NM_019032.6(ADAMTSL4):c.2490C>A (p.Pro830=)	ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976423	NM_019032.6(ADAMTSL4):c.1371+12_1371+15del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2976228	NM_019032.6(ADAMTSL4):c.1131+13G>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973990	NM_019032.6(ADAMTSL4):c.2178-16C>T	ADAMTSL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973945	NM_019032.6(ADAMTSL4):c.2268G>A (p.Gly756=)	ADAMTSL4	Single nucleotide variant (synonymous 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 2972844	NM_019032.6(ADAMTSL4):c.21-12T>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971392	NM_019032.6(ADAMTSL4):c.1524G>A (p.Ala508=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971230	NM_019032.6(ADAMTSL4):c.2764-1G>A	ADAMTSL4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2971072	NM_019032.6(ADAMTSL4):c.1546G>T (p.Ala516Ser)	ADAMTSL4, ADAMTSL4-AS2 (A516S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971053	NM_019032.6(ADAMTSL4):c.2382+7_2382+8del	ADAMTSL4	Deletion (intron variant)	not provided	GLikely benign
Select item 2970915	NM_019032.6(ADAMTSL4):c.1428C>T (p.Val476=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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