Related gene-specific medical variations for Gene (Select 100289061) - 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 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 3061333	NM_019032.6(ADAMTSL4):c.1089A>G (p.Arg363=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	ADAMTSL4-related disorder	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 disorder	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 disorder	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 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 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 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 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 2993181	NM_019032.6(ADAMTSL4):c.723C>T (p.Ala241=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous 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 2991434	NM_019032.6(ADAMTSL4):c.552C>T (p.Ser184=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous 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 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 2982632	NM_019032.6(ADAMTSL4):c.441G>A (p.Arg147=)	ADAMTSL4, ADAMTSL4-AS2	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 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 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 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 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 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 2970915	NM_019032.6(ADAMTSL4):c.1428C>T (p.Val476=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	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 2969242	NM_019032.6(ADAMTSL4):c.2047+14del	ADAMTSL4, ADAMTSL4-AS2	Deletion (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 2966961	NM_019032.6(ADAMTSL4):c.78+20G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965819	NM_019032.6(ADAMTSL4):c.639G>A (p.Glu213=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965585	NM_019032.6(ADAMTSL4):c.1862-20T>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964658	NM_019032.6(ADAMTSL4):c.1235-13C>T	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963699	NM_019032.6(ADAMTSL4):c.981C>A (p.Arg327=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962396	NM_019032.6(ADAMTSL4):c.1281C>T (p.Phe427=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960552	NM_019032.6(ADAMTSL4):c.744C>T (p.Pro248=)	ADAMTSL4-AS2, ADAMTSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958912	NM_019032.6(ADAMTSL4):c.1842_1849del (p.Val615fs)	ADAMTSL4, ADAMTSL4-AS2 (V615fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2958863	NM_019032.6(ADAMTSL4):c.2177+11G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958850	NM_019032.6(ADAMTSL4):c.2048-22_2048-15del	ADAMTSL4, ADAMTSL4-AS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2958763	NM_019032.6(ADAMTSL4):c.1142_1143del (p.Pro381fs)	ADAMTSL4, ADAMTSL4-AS2 (P381fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2957579	NM_019032.6(ADAMTSL4):c.1750-15T>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955790	NM_019032.6(ADAMTSL4):c.1102_1103del (p.Glu367_Ser368insTer)	ADAMTSL4, ADAMTSL4-AS2	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2905644	NM_019032.6(ADAMTSL4):c.1737T>C (p.Pro579=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903835	NM_019032.6(ADAMTSL4):c.960G>A (p.Gly320=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900260	NM_019032.6(ADAMTSL4):c.745C>T (p.Leu249=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899246	NM_019032.6(ADAMTSL4):c.1653C>T (p.Gly551=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895372	NM_019032.6(ADAMTSL4):c.1863G>A (p.Glu621=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895328	NM_019032.6(ADAMTSL4):c.1332G>A (p.Gln444=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891978	NM_019032.6(ADAMTSL4):c.2177+9G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891874	NM_019032.6(ADAMTSL4):c.259C>T (p.Arg87Trp)	ADAMTSL4, ADAMTSL4-AS2 (R87W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2881360	NM_019032.6(ADAMTSL4):c.1434G>C (p.Gly478=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous 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 2880902	NM_019032.6(ADAMTSL4):c.1746C>T (p.Val582=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877726	NM_019032.6(ADAMTSL4):c.268del (p.Arg90fs)	ADAMTSL4, ADAMTSL4-AS2 (R90fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2873217	NM_019032.6(ADAMTSL4):c.477T>C (p.Tyr159=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872911	NM_019032.6(ADAMTSL4):c.591T>C (p.Pro197=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871470	NM_019032.6(ADAMTSL4):c.2151C>T (p.Pro717=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871108	NM_019032.6(ADAMTSL4):c.2148A>G (p.Glu716=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869820	NM_019032.6(ADAMTSL4):c.2169C>T (p.Cys723=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868532	NM_019032.6(ADAMTSL4):c.318T>A (p.Thr106=)	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 2866386	NM_019032.6(ADAMTSL4):c.434+14G>C	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2864816	NM_019032.6(ADAMTSL4):c.210A>T (p.Thr70=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863395	NM_019032.6(ADAMTSL4):c.434+9C>G	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2861798	NM_019032.6(ADAMTSL4):c.987G>A (p.Glu329=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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