"GeneDx"[submitter] AND "SEC63"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 354886	NM_007214.5(SEC63):c.*256T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 354888	NM_007214.5(SEC63):c.*123T>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2 +1 more	GBenign
Select item 1229482	NM_007214.5(SEC63):c.2140-97G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300896	NM_007214.5(SEC63):c.2140-202A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273710	NM_007214.5(SEC63):c.2139+294dup	SEC63	Duplication (intron variant)	not provided	GBenign
Select item 1222986	NM_007214.5(SEC63):c.2139+287A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300793	NM_007214.5(SEC63):c.2139+205T>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1710555	NM_007214.5(SEC63):c.2122C>T (p.Gln708Ter)	SEC63 (Q708*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1264721	NM_007214.5(SEC63):c.2035-125A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260153	NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)	SEC63 (T676I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1255624	NM_007214.5(SEC63):c.2006_2007del (p.His669fs)	SEC63 (H669fs)	Deletion (frameshift variant)	SEC63-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1256837	NM_007214.5(SEC63):c.1936-132T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271828	NM_007214.5(SEC63):c.1936-186A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175653	NM_007214.5(SEC63):c.1833+252G>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253333	NM_007214.5(SEC63):c.1745A>G (p.Asn582Ser)	SEC63 (N582S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802051	NM_007214.5(SEC63):c.1711G>C (p.Asp571His)	SEC63 (D571H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354899	NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)	SEC63 (E568del)	Microsatellite (inframe_deletion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 3363420	NM_007214.5(SEC63):c.1703_1704inv (p.Glu568Val)	SEC63 (E568V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1300816	NM_007214.5(SEC63):c.1675-238T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186637	NM_007214.5(SEC63):c.1674+182C>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354902	NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)	SEC63 (V556I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 354903	NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr)	SEC63	Insertion (inframe_insertion)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 2571945	NM_007214.5(SEC63):c.1586dup (p.Lys530fs)	SEC63 (K530fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1182493	NM_007214.5(SEC63):c.1441-114A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226320	NM_007214.5(SEC63):c.1441-260T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280887	NM_007214.5(SEC63):c.1358-128A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194846	NM_007214.5(SEC63):c.1357+122A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354905	NM_007214.5(SEC63):c.1278C>T (p.Phe426=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 1234404	NM_007214.5(SEC63):c.1210-18dup	SEC63	Duplication (intron variant)	not provided +1 more	GBenign
Select item 354906	NM_007214.5(SEC63):c.1210-7del	SEC63	Deletion (intron variant)	Polycystic liver disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 1300762	NM_007214.5(SEC63):c.1210-78A>T	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300661	NM_007214.5(SEC63):c.1055-122dup	SEC63	Duplication (intron variant)	not provided	GLikely benign
Select item 1272788	NM_007214.5(SEC63):c.1055-220T>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254157	NM_007214.5(SEC63):c.1054+86C>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221498	NM_007214.5(SEC63):c.961+129A>C	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313736	NM_007214.5(SEC63):c.950C>T (p.Thr317Ile)	SEC63 (T317I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710769	NM_007214.5(SEC63):c.734-45G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300721	NM_007214.5(SEC63):c.733+277T>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255636	NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)	SEC63 (R239*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1252921	NM_007214.5(SEC63):c.625-107T>A	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267425	NM_007214.5(SEC63):c.624+308C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300746	NM_007214.5(SEC63):c.624+186A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1339607	NM_007214.5(SEC63):c.624+177C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178530	NM_007214.5(SEC63):c.574-59A>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95474	NM_007214.5(SEC63):c.564C>T (p.Asn188=)	SEC63	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1339632	NM_007214.5(SEC63):c.514+137A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249112	NM_007214.5(SEC63):c.452+322T>C	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300610	NM_007214.5(SEC63):c.452+277G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 225118	NM_007214.5(SEC63):c.452+1G>A	SEC63	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1202037	NM_007214.5(SEC63):c.340-6_340-3dup	SEC63	Duplication (intron variant)	not provided	GLikely benign
Select item 769316	NM_007214.5(SEC63):c.340-6_340-4dup	SEC63	Duplication (intron variant)	Polycystic liver disease 2 +1 more	GBenign
Select item 1267332	NM_007214.5(SEC63):c.340-12_340-7del	SEC63	Deletion (intron variant)	not provided	GBenign
Select item 403425	NM_007214.5(SEC63):c.340-7T>C	SEC63	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 522188	NM_007214.5(SEC63):c.340-12_340-8del	SEC63	Deletion (intron variant)	Polycystic liver disease 2 +2 more	GBenign/Likely benign
Select item 769317	NM_007214.5(SEC63):c.340-12_340-9del	SEC63	Deletion (intron variant)	not provided	GBenign
Select item 197286	NM_007214.5(SEC63):c.340-12_340-11del	SEC63	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1229635	NM_007214.5(SEC63):c.340-13_340-12insCCC	SEC63	Insertion (intron variant)	not provided	GBenign
Select item 167669	NM_007214.5(SEC63):c.340-12G>T	SEC63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1265650	NM_007214.5(SEC63):c.340-144T>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290609	NM_007214.5(SEC63):c.340-175_340-174dup	SEC63	Duplication (intron variant)	not provided	GBenign
Select item 1257558	NM_007214.5(SEC63):c.339+149_339+151del	SEC63	Microsatellite (intron variant)	not provided	GBenign
Select item 1269981	NM_007214.5(SEC63):c.225-162C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224748	NM_007214.5(SEC63):c.224+105A>G	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273189	NM_007214.5(SEC63):c.124+94C>T	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1578432	NM_007214.5(SEC63):c.124+20G>A	SEC63	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 354921	NM_007214.5(SEC63):c.-77C>T	SEC63	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1180081	NC_000006.12:g.107958342T>G	SEC63	Single nucleotide variant	not provided	GBenign
Select item 254002	GRCh37/hg19 6q21(chr6:108278386-108831557)x3	SNX3, NR2E1 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 70