SEC24D[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 487

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 1181948	NM_014822.4(SEC24D):c.*172A>G	SEC24D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1931835	NM_014822.4(SEC24D):c.3098_*2del (p.Asn1032_Ter1033insTer)	SEC24D	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 1525459	NM_014822.4(SEC24D):c.3074A>G (p.Lys1025Arg)	SEC24D (K1026R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3159337	NM_014822.4(SEC24D):c.3063T>G (p.Cys1021Trp)	SEC24D (C1021W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396537	NM_014822.4(SEC24D):c.3059T>A (p.Leu1020His)	SEC24D (L1021H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196804	NM_014822.4(SEC24D):c.3052G>A (p.Asp1018Asn)	SEC24D (D1018N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575857	NM_014822.4(SEC24D):c.3048_3049insAA (p.Val1017fs)	SEC24D (V1017fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3058562	NM_014822.4(SEC24D):c.3048T>C (p.Tyr1016=)	SEC24D	Single nucleotide variant (synonymous variant)	SEC24D-related disorder	GLikely benign
Select item 1987965	NM_014822.4(SEC24D):c.3041CTT[1] (p.Ser1015del)	SEC24D (S1016del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 189339	NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe)	SEC24D (S1015F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1959593	NM_014822.4(SEC24D):c.3041C>T (p.Ser1014Phe)	SEC24D (S1015F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392819	NM_014822.4(SEC24D):c.3035G>C (p.Gly1012Ala)	SEC24D (G1012A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444765	NM_014822.4(SEC24D):c.3034G>A (p.Gly1012Arg)	SEC24D (G1013R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345860	NM_014822.4(SEC24D):c.3014T>G (p.Val1005Gly)	SEC24D (V1005G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547142	NM_014822.4(SEC24D):c.3012G>C (p.Leu1004=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521240	NM_014822.4(SEC24D):c.3002G>A (p.Arg1001Gln)	SEC24D (R1002Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180330	NM_014822.4(SEC24D):c.2993T>C (p.Met998Thr)	SEC24D (M998T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381110	NM_014822.4(SEC24D):c.2983C>T (p.Gln995Ter)	SEC24D (Q995* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1373110	NM_014822.4(SEC24D):c.2978G>A (p.Arg993Gln)	SEC24D (R994Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003692	NM_014822.4(SEC24D):c.2977C>T (p.Arg993Ter)	SEC24D (R993* +1 more)	Single nucleotide variant (nonsense)	SEC24D-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2481615	NM_014822.4(SEC24D):c.2965A>G (p.Ile989Val)	SEC24D (I990V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1442023	NM_014822.4(SEC24D):c.2959-3del	SEC24D	Deletion (intron variant)	not provided	GUncertain significance
Select item 1283265	NM_014822.4(SEC24D):c.2959-15dup	SEC24D	Duplication (intron variant)	not provided +1 more	GBenign
Select item 714990	NM_014822.4(SEC24D):c.2959-5C>T	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052472	NM_014822.4(SEC24D):c.2959-6del	SEC24D	Deletion (intron variant)	not provided	GBenign
Select item 1645424	NM_014822.4(SEC24D):c.2959-11T>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021314	NM_014822.4(SEC24D):c.2959-13T>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628544	NM_014822.4(SEC24D):c.2959-16_2959-13del	SEC24D	Deletion (intron variant)	not provided	GLikely benign
Select item 1903530	NM_014822.4(SEC24D):c.2959-16del	SEC24D	Deletion (intron variant)	not provided	GLikely benign
Select item 1215219	NM_014822.4(SEC24D):c.2959-16G>T	SEC24D	Single nucleotide variant (intron variant)	Cole-Carpenter syndrome 2 +1 more	GBenign/Likely benign
Select item 1200782	NM_014822.4(SEC24D):c.2959-288C>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289773	NM_014822.4(SEC24D):c.2958+123T>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1553615	NM_014822.4(SEC24D):c.2958+7A>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311924	NM_014822.4(SEC24D):c.2953A>G (p.Met985Val)	SEC24D (M985V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904075	NM_014822.4(SEC24D):c.2946A>G (p.Pro982=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189341	NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro)	SEC24D (Q978P +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 742569	NM_014822.4(SEC24D):c.2901T>C (p.Ser967=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1455511	NM_014822.4(SEC24D):c.2880T>C (p.Pro960=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729854	NM_014822.4(SEC24D):c.2872T>C (p.Leu958=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716452	NM_014822.4(SEC24D):c.2869A>G (p.Thr957Ala)	SEC24D (T957A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1263629	NM_014822.4(SEC24D):c.2868+117A>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199574	NM_014822.4(SEC24D):c.2868+99_2868+101del	SEC24D	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1205556	NM_014822.4(SEC24D):c.2868+64_2868+67del	SEC24D	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1371572	NM_014822.4(SEC24D):c.2867T>C (p.Met956Thr)	SEC24D (M957T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949681	NM_014822.4(SEC24D):c.2864A>G (p.Asp955Gly)	SEC24D (D955G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499850	NM_014822.4(SEC24D):c.2852A>T (p.His951Leu)	SEC24D (H951L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796018	NM_014822.4(SEC24D):c.2850A>G (p.Ala950=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638181	NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)	SEC24D (S948P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590245	NM_014822.4(SEC24D):c.2820C>G (p.Ile940Met)	SEC24D (I940M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785799	NM_014822.4(SEC24D):c.2784C>T (p.Phe928=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731078	NM_014822.4(SEC24D):c.2784C>A (p.Phe928Leu)	SEC24D (F928L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2333714	NM_014822.4(SEC24D):c.2779A>G (p.Met927Val)	SEC24D (M927V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1374691	NM_014822.4(SEC24D):c.2776C>T (p.His926Tyr)	SEC24D (H926Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2887295	NM_014822.4(SEC24D):c.2763G>A (p.Leu921=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988755	NM_014822.4(SEC24D):c.2752A>G (p.Ile918Val)	SEC24D (I918V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3159334	NM_014822.4(SEC24D):c.2747A>G (p.Glu916Gly)	SEC24D (E917G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1951903	NM_014822.4(SEC24D):c.2743G>C (p.Glu915Gln)	SEC24D (E915Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205869	NM_014822.4(SEC24D):c.2734C>T (p.Arg912Cys)	SEC24D (R912C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267254	NM_014822.4(SEC24D):c.2733C>A (p.Ser911=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638180	NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr)	SEC24D (C908Y +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GPathogenic
Select item 2184374	NM_014822.4(SEC24D):c.2716G>A (p.Val906Ile)	SEC24D (V906I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794453	NM_014822.4(SEC24D):c.2715C>T (p.Ala905=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003414	NM_014822.4(SEC24D):c.2700A>T (p.Thr900=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080663	NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)	SEC24D (T894M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2787664	NM_014822.4(SEC24D):c.2677-10G>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936681	NM_014822.4(SEC24D):c.2677-21_2677-20del	SEC24D	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195859	NM_014822.4(SEC24D):c.2677-21C>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205237	NM_014822.4(SEC24D):c.2677-166G>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193783	NM_014822.4(SEC24D):c.2677-264T>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239562	NM_014822.4(SEC24D):c.2676+66C>G	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981817	NM_014822.4(SEC24D):c.2676+18G>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082167	NM_014822.4(SEC24D):c.2676+11T>C	SEC24D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564910	NM_014822.4(SEC24D):c.2673C>T (p.Pro891=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418930	NM_014822.4(SEC24D):c.2650T>C (p.Phe884Leu)	SEC24D (F885L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794930	NM_014822.4(SEC24D):c.2625C>A (p.Thr875=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030036	NM_014822.4(SEC24D):c.2614C>T (p.Leu872=)	SEC24D	Single nucleotide variant (synonymous variant)	SEC24D-related disorder	GLikely benign
Select item 2285265	NM_014822.4(SEC24D):c.2609G>C (p.Arg870Thr)	SEC24D (R871T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 987405	NM_014822.4(SEC24D):c.2596C>T (p.Arg866Ter)	SEC24D (R866* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1470549	NM_014822.4(SEC24D):c.2585C>T (p.Ser862Leu)	SEC24D (S862L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925838	NM_014822.4(SEC24D):c.2576C>T (p.Pro859Leu)	SEC24D (P859L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494898	NM_014822.4(SEC24D):c.2566C>A (p.Leu856Ile)	SEC24D (L857I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2552497	NM_014822.4(SEC24D):c.2564T>C (p.Leu855Pro)	SEC24D (L855P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1644803	NM_014822.4(SEC24D):c.2563C>G (p.Leu855Val)	SEC24D (L855V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2107752	NM_014822.4(SEC24D):c.2560G>C (p.Val854Leu)	SEC24D (V854L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713096	NM_014822.4(SEC24D):c.2536A>G (p.Met846Val)	SEC24D (M846V +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2 +1 more	GBenign/Likely benign
Select item 714245	NM_014822.4(SEC24D):c.2528C>T (p.Pro843Leu)	SEC24D (P843L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2973955	NM_014822.4(SEC24D):c.2512T>G (p.Ser838Ala)	SEC24D (S838A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741552	NM_014822.4(SEC24D):c.2505A>G (p.Leu835=)	SEC24D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350210	NM_014822.4(SEC24D):c.2503C>G (p.Leu835Val)	SEC24D (L836V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996785	NM_014822.4(SEC24D):c.2497-4dup	SEC24D	Duplication (intron variant)	not provided	GBenign
Select item 2016880	NM_014822.4(SEC24D):c.2497-8T>C	SEC24D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1221232	NM_014822.4(SEC24D):c.2496+272T>C	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286621	NM_014822.4(SEC24D):c.2496+236G>A	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230003	NM_014822.4(SEC24D):c.2496+132A>T	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260727	NM_014822.4(SEC24D):c.2496+95C>T	SEC24D	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 5