"GeneDx"[submitter] AND "SEC23B"[gene] - ClinVar

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Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
Select item 1282987	NC_000020.11:g.18507148A>G	SEC23B	Single nucleotide variant	not provided	GBenign
Select item 683760	NC_000020.11:g.18507421G>C	SEC23B	Single nucleotide variant	not provided	GBenign
Select item 337781	NM_006363.5(SEC23B):c.-232C>G	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia +1 more	GBenign
Select item 1281680	NM_006363.6(SEC23B):c.-15+138G>C	SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1192948	NM_006363.6(SEC23B):c.-15+221G>C	LOC130065473, SEC23B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1223	NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	SEC23B (R14W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1259122	NM_006363.6(SEC23B):c.221+228A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226327	NM_006363.6(SEC23B):c.221+351A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272467	NM_006363.6(SEC23B):c.221+462_221+463del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 1258399	NM_006363.6(SEC23B):c.221+463del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 1281227	NM_006363.6(SEC23B):c.222-358C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2582177	NM_006363.6(SEC23B):c.256A>G (p.Asn86Asp)	SEC23B (N86D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1233800	NM_006363.6(SEC23B):c.280-200A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183213	NM_006363.6(SEC23B):c.280-171G>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047051	NM_006363.6(SEC23B):c.358G>A (p.Val120Met)	SEC23B (V120M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3340327	NM_006363.6(SEC23B):c.367-1G>A	LOC126862987, SEC23B	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 197785	NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)	LOC126862987, SEC23B (R190Q +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GUncertain significance
Select item 1236694	NM_006363.6(SEC23B):c.603+90G>C	SEC23B, LOC126862987	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269205	NM_006363.6(SEC23B):c.689+233T>C	LOC126862987, SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183121	NM_006363.6(SEC23B):c.690-305A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286967	NM_006363.6(SEC23B):c.690-273T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250891	NM_006363.6(SEC23B):c.690-146_690-144del	SEC23B	Microsatellite (intron variant)	not provided	GBenign
Select item 811603	NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)	SEC23B (T239I +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 1268014	NM_006363.6(SEC23B):c.834+40T>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 1249876	NM_006363.6(SEC23B):c.834+41G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 1266015	NM_006363.6(SEC23B):c.834+101C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282899	NM_006363.6(SEC23B):c.835-192C>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 663227	NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)	SEC23B (T279I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 707385	NM_006363.6(SEC23B):c.993+19G>A	SEC23B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1223300	NM_006363.6(SEC23B):c.994-282C>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206811	NM_006363.6(SEC23B):c.994-175G>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268284	NM_006363.6(SEC23B):c.1109+49A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279335	NM_006363.6(SEC23B):c.1110-150T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95379	NM_006363.6(SEC23B):c.1233+9A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign
Select item 337793	NM_006363.6(SEC23B):c.1233+25dup	SEC23B	Duplication (intron variant)	Congenital dyserythropoietic anemia +1 more	GBenign
Select item 1248765	NM_006363.6(SEC23B):c.1233+57T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279161	NM_006363.6(SEC23B):c.1233+225T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 167666	NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)	SEC23B (V426I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95380	NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu)	SEC23B (P433L +1 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign
Select item 1257932	NM_006363.6(SEC23B):c.1314+144C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247844	NM_006363.6(SEC23B):c.1314+217C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182187	NM_006363.6(SEC23B):c.1315-211T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288836	NM_006363.6(SEC23B):c.1404+202T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259473	NM_006363.6(SEC23B):c.1405-281G>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95381	NM_006363.6(SEC23B):c.1405-7C>T	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign
Select item 95382	NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)	SEC23B (H489Q +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +3 more	GBenign
Select item 570596	NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)	SEC23B (R503* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 167668	NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	SEC23B (R550* +1 more)	Single nucleotide variant (nonsense)	Congenital dyserythropoietic anemia, type II +2 more	GPathogenic
Select item 1229749	NM_006363.6(SEC23B):c.1665+48C>T	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 1262480	NM_006363.6(SEC23B):c.1665+142G>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217948	NM_006363.6(SEC23B):c.1665+208C>T	SEC23B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256740	NM_006363.6(SEC23B):c.1665+211A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707069	NM_006363.6(SEC23B):c.1743+168A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GConflicting classifications of pathogenicity
Select item 1269431	NM_006363.6(SEC23B):c.1744-272C>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274934	NM_006363.6(SEC23B):c.1744-146G>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95385	NM_006363.6(SEC23B):c.1744-20T>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +3 more	GBenign
Select item 422376	NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile)	SEC23B (L625I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1273622	NM_006363.6(SEC23B):c.1906-251del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 1227095	NM_006363.6(SEC23B):c.1906-234G>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254401	NM_006363.6(SEC23B):c.1993-302del	SEC23B	Deletion (intron variant)	not provided	GBenign
Select item 95386	NM_006363.6(SEC23B):c.2061G>T (p.Leu687=)	SEC23B	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign
Select item 1252723	NM_006363.6(SEC23B):c.2148+241T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296385	NM_006363.6(SEC23B):c.2149-267_2149-266dup	SEC23B	Duplication (intron variant)	not provided	GBenign
Select item 1252745	NM_006363.6(SEC23B):c.2149-266dup	SEC23B	Duplication (intron variant)	not provided	GBenign
Select item 1199964	NM_006363.6(SEC23B):c.2149-282C>A	SEC23B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189971	NM_006363.6(SEC23B):c.2149-268_2149-266dup	SEC23B	Duplication (intron variant)	not provided	GLikely benign
Select item 1234550	NM_006363.6(SEC23B):c.2149-250T>C	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279351	NM_006363.6(SEC23B):c.2149-130_2149-101del	SEC23B	Microsatellite (intron variant)	not provided	GBenign
Select item 1280494	NM_006363.6(SEC23B):c.2214+165A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229094	NM_006363.6(SEC23B):c.2214+275T>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277532	NM_006363.6(SEC23B):c.2215-198A>G	SEC23B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 75