ClinVar for Gene (Select 2137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345265	NM_001440.4(EXTL3):c.2577C>A (p.Cys859Ter)	EXTL3 (C859*)	Single nucleotide variant (nonsense +1 more)	EXTL3-related disorder	GUncertain significance
Select item 3276876	NM_001440.4(EXTL3):c.1793C>T (p.Thr598Ile)	EXTL3 (T598I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276875	NM_001440.4(EXTL3):c.2662G>A (p.Gly888Ser)	EXTL3 (G888S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276874	NM_001440.4(EXTL3):c.493G>A (p.Asp165Asn)	EXTL3 (D165N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091305	NM_001440.4(EXTL3):c.511C>T (p.Pro171Ser)	EXTL3 (P171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091304	NM_001440.4(EXTL3):c.23G>A (p.Arg8Gln)	EXTL3 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091303	NM_001440.4(EXTL3):c.2328C>A (p.His776Gln)	EXTL3 (H776Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091301	NM_001440.4(EXTL3):c.2152G>A (p.Val718Ile)	EXTL3 (V718I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091300	NM_001440.4(EXTL3):c.2098A>G (p.Lys700Glu)	EXTL3 (K700E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3039593	NM_001440.4(EXTL3):c.342C>A (p.Ile114=)	EXTL3	Single nucleotide variant (synonymous variant)	EXTL3-related disorder	GLikely benign
Select item 3001411	NM_001440.4(EXTL3):c.105G>A (p.Thr35=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000212	NM_001440.4(EXTL3):c.1888T>C (p.Leu630=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998306	NM_001440.4(EXTL3):c.2673C>T (p.Pro891=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993940	NM_001440.4(EXTL3):c.1992G>A (p.Thr664=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989166	NM_001440.4(EXTL3):c.1740G>A (p.Thr580=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987967	NM_001440.4(EXTL3):c.504C>T (p.Leu168=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987520	NM_001440.4(EXTL3):c.2469C>T (p.Asp823=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982332	NM_001440.4(EXTL3):c.2235C>T (p.Asp745=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975393	NM_001440.4(EXTL3):c.1083C>T (p.Arg361=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971956	NM_001440.4(EXTL3):c.1356C>T (p.Phe452=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969312	NM_001440.4(EXTL3):c.30G>T (p.Gly10=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962497	NM_001440.4(EXTL3):c.2149-15C>T	EXTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959973	NM_001440.4(EXTL3):c.2148+5T>C	EXTL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916250	NM_001440.4(EXTL3):c.1089C>T (p.Phe363=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904095	NM_001440.4(EXTL3):c.1746G>A (p.Pro582=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901316	NM_001440.4(EXTL3):c.1860C>T (p.Asp620=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895223	NM_001440.4(EXTL3):c.117C>T (p.Ile39=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893237	NM_001440.4(EXTL3):c.2739C>G (p.Thr913=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879783	NM_001440.4(EXTL3):c.1117G>A (p.Ala373Thr)	EXTL3 (A373T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874258	NM_001440.4(EXTL3):c.2421+17A>G	EXTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870592	NM_001440.4(EXTL3):c.999A>G (p.Pro333=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869678	NM_001440.4(EXTL3):c.1068C>T (p.Ser356=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869534	NM_001440.4(EXTL3):c.792A>C (p.Pro264=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869509	NM_001440.4(EXTL3):c.565C>T (p.Pro189Ser)	EXTL3 (P189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867718	NM_001440.4(EXTL3):c.252C>T (p.Arg84=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863206	NM_001440.4(EXTL3):c.1872C>T (p.Pro624=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860074	NM_001440.4(EXTL3):c.135C>T (p.Leu45=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856719	NM_001440.4(EXTL3):c.61C>T (p.Leu21=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855671	NM_001440.4(EXTL3):c.1420G>A (p.Asp474Asn)	EXTL3 (D474N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847780	NM_001440.4(EXTL3):c.1710C>T (p.Asn570=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845816	NM_001440.4(EXTL3):c.2664C>T (p.Gly888=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841945	NM_001440.4(EXTL3):c.2467G>A (p.Asp823Asn)	EXTL3 (D823N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841900	NM_001440.4(EXTL3):c.1912C>T (p.Pro638Ser)	EXTL3 (P638S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839175	NM_001440.4(EXTL3):c.467C>T (p.Pro156Leu)	EXTL3 (P156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821641	NM_001440.4(EXTL3):c.462C>T (p.Ser154=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821583	NM_001440.4(EXTL3):c.1521T>C (p.Ala507=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821395	NM_001440.4(EXTL3):c.564C>T (p.Cys188=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812799	NM_001440.4(EXTL3):c.1341T>C (p.Cys447=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805668	NM_001440.4(EXTL3):c.747G>C (p.Val249=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804598	NM_001440.4(EXTL3):c.123C>G (p.Val41=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804012	NM_001440.4(EXTL3):c.2685G>A (p.Thr895=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799524	NM_001440.4(EXTL3):c.2422-15T>G	EXTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796049	NM_001440.4(EXTL3):c.2551-4C>T	EXTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790431	NM_001440.4(EXTL3):c.1222C>T (p.Leu408=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789191	NM_001440.4(EXTL3):c.2T>C (p.Met1Thr)	EXTL3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2787268	NM_001440.4(EXTL3):c.2276+17C>T	EXTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784805	NM_001440.4(EXTL3):c.2724G>A (p.Leu908=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782574	NM_001440.4(EXTL3):c.1332C>T (p.Ser444=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779843	NM_001440.4(EXTL3):c.1781C>G (p.Thr594Ser)	EXTL3 (T594S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772802	NM_001440.4(EXTL3):c.945C>G (p.Val315=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767397	NM_001440.4(EXTL3):c.1134G>A (p.Arg378=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761596	NM_001440.4(EXTL3):c.2305G>A (p.Val769Met)	EXTL3 (V769M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755133	NM_001440.4(EXTL3):c.810A>G (p.Gly270=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750666	NM_001440.4(EXTL3):c.1338G>C (p.Gly446=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748777	NM_001440.4(EXTL3):c.2679G>A (p.Leu893=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2740864	NM_001440.4(EXTL3):c.1986G>T (p.Gln662His)	EXTL3 (Q662H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717694	NM_001440.4(EXTL3):c.2103G>A (p.Leu701=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715493	NM_001440.4(EXTL3):c.2553G>A (p.Val851=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2705609	NM_001440.4(EXTL3):c.723A>G (p.Leu241=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704296	NM_001440.4(EXTL3):c.2436G>C (p.Leu812=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2692884	NM_001440.4(EXTL3):c.2724G>T (p.Leu908=)	EXTL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685307	GRCh37/hg19 8p21.1(chr8:28560001-28775609)x1	EXTL3, HMBOX1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2616921	NM_001440.4(EXTL3):c.255C>G (p.Ile85Met)	EXTL3 (I85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2553832	NM_001440.4(EXTL3):c.1769T>G (p.Leu590Arg)	EXTL3 (L590R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421235	NM_001440.4(EXTL3):c.1359A>G (p.Glu453=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420264	NM_001440.4(EXTL3):c.852A>G (p.Thr284=)	EXTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416923	NM_001440.4(EXTL3):c.1513C>T (p.Leu505Phe)	EXTL3 (L505F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414748	NM_001440.4(EXTL3):c.958G>C (p.Val320Leu)	EXTL3 (V320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2360187	NM_001440.4(EXTL3):c.1108G>A (p.Asp370Asn)	EXTL3 (D370N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339043	NM_001440.4(EXTL3):c.1538G>A (p.Arg513His)	EXTL3 (R513H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329726	NM_001440.4(EXTL3):c.546C>G (p.Cys182Trp)	EXTL3 (C182W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299328	NM_001440.4(EXTL3):c.1253G>T (p.Arg418Leu)	EXTL3 (R418L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283752	NM_001440.4(EXTL3):c.1361C>G (p.Ala454Gly)	EXTL3 (A454G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274106	NM_001440.4(EXTL3):c.2035T>G (p.Ser679Ala)	EXTL3 (S679A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270516	NM_001440.4(EXTL3):c.2518G>A (p.Val840Ile)	EXTL3 (V840I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266057	NM_001440.4(EXTL3):c.1450G>T (p.Val484Leu)	EXTL3 (V484L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263729	NM_001440.4(EXTL3):c.1304C>A (p.Thr435Asn)	EXTL3 (T435N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262553	NM_001440.4(EXTL3):c.251G>A (p.Arg84His)	EXTL3 (R84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256704	NM_001440.4(EXTL3):c.659C>T (p.Ala220Val)	EXTL3 (A220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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