"GeneDx"[submitter] AND "STT3A"[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 1329747	NC_000011.10:g.125592720T>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1318192	NC_000011.10:g.125592721T>A	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1225504	NC_000011.10:g.125592730G>T	STT3A	Single nucleotide variant	not provided	GBenign
Select item 1317971	NC_000011.10:g.125592739A>G	STT3A	Single nucleotide variant	not provided	GLikely benign
Select item 1243559	NC_000011.10:g.125592740C>T	STT3A	Single nucleotide variant	not provided	GBenign
Select item 1275875	NC_000011.10:g.125592747G>A	STT3A	Single nucleotide variant	not provided	GBenign
Select item 387269	NM_152713.5(STT3A):c.-36+17A>G	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385431	NM_152713.5(STT3A):c.-36+815T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390889	NM_152713.5(STT3A):c.-36+817C>G	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1292244	NM_152713.5(STT3A):c.-36+938TGT[3]	STT3A	Microsatellite (intron variant)	not provided	GBenign
Select item 1283051	NM_152713.5(STT3A):c.-35-191C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258070	NM_152713.5(STT3A):c.-35-124C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385817	NM_152713.5(STT3A):c.-34T>C	STT3A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380012	NM_152713.5(STT3A):c.52T>C (p.Leu18=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 380013	NM_152713.5(STT3A):c.88+7G>T	STT3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1292105	NM_152713.5(STT3A):c.88+103A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244774	NM_152713.5(STT3A):c.88+112T>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244349	NM_152713.5(STT3A):c.89-278G>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387990	NM_152713.5(STT3A):c.149+20C>T	STT3A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1246556	NM_152713.5(STT3A):c.149+130C>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228190	NM_152713.5(STT3A):c.149+318dup	STT3A	Duplication (intron variant)	not provided	GBenign
Select item 1259863	NM_152713.5(STT3A):c.150-156G>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292108	NM_152713.5(STT3A):c.150-137T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383002	NM_152713.5(STT3A):c.177C>T (p.Phe59=)	STT3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 389181	NM_152713.5(STT3A):c.271+8G>T	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1227857	NM_152713.5(STT3A):c.271+28T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316158	NM_152713.5(STT3A):c.271+39dup	STT3A	Duplication (intron variant)	not provided	GLikely benign
Select item 1259748	NM_152713.5(STT3A):c.271+29T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318087	NM_152713.5(STT3A):c.271+30A>T	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174302	NM_152713.5(STT3A):c.271+123C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271954	NM_152713.5(STT3A):c.272-155G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223024	NM_152713.5(STT3A):c.272-82T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257216	NM_152713.5(STT3A):c.418-288A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292113	NM_152713.5(STT3A):c.418-56G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229321	NM_152713.5(STT3A):c.508+164T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258360	NM_152713.5(STT3A):c.508+190T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222436	NM_152713.5(STT3A):c.508+206T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316682	NM_152713.5(STT3A):c.509-215T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183847	NM_152713.5(STT3A):c.509-180T>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706696	NM_152713.5(STT3A):c.509-169G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179408	NM_152713.5(STT3A):c.509-84C>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178671	NM_152713.5(STT3A):c.509-81G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384045	NM_152713.5(STT3A):c.509-15G>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1707394	NM_152713.5(STT3A):c.616-203T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283900	NM_152713.5(STT3A):c.616-154del	STT3A	Deletion (intron variant)	not provided	GBenign
Select item 1262905	NM_152713.5(STT3A):c.616-85G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387767	NM_152713.5(STT3A):c.616-12A>G	STT3A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 669172	NM_152713.5(STT3A):c.651C>T (p.Asn217=)	STT3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380014	NM_152713.5(STT3A):c.672C>G (p.Leu224=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 385860	NM_152713.5(STT3A):c.768T>C (p.Phe256=)	STT3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1278860	NM_152713.5(STT3A):c.780+183A>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236591	NM_152713.5(STT3A):c.780+209C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258622	NM_152713.5(STT3A):c.780+286G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253426	NM_152713.5(STT3A):c.781-117G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316275	NM_152713.5(STT3A):c.781-109A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292112	NM_152713.5(STT3A):c.961+25C>T	STT3A	Single nucleotide variant (intron variant)	STT3A-congenital disorder of glycosylation +1 more	GBenign
Select item 1263219	NM_152713.5(STT3A):c.961+55C>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233965	NM_152713.5(STT3A):c.961+160G>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276361	NM_152713.5(STT3A):c.961+284G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380015	NM_152713.5(STT3A):c.996G>A (p.Ser332=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 380031	NM_152713.5(STT3A):c.1117+12C>T	STT3A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1326169	NM_152713.5(STT3A):c.1117+145T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326129	NM_152713.5(STT3A):c.1118-62T>C	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512293	NM_152713.5(STT3A):c.1179T>C (p.Gly393=)	STT3A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1260577	NM_152713.5(STT3A):c.1209+207G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234876	NM_152713.5(STT3A):c.1210-248A>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292109	NM_152713.5(STT3A):c.1210-142G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380016	NM_152713.5(STT3A):c.1365+8G>A	STT3A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1329772	NM_152713.5(STT3A):c.1365+37TG[6]	STT3A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237782	NM_152713.5(STT3A):c.1365+71G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380575	NM_152713.5(STT3A):c.1464T>C (p.Ile488=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1291033	NM_152713.5(STT3A):c.1554+99G>T	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265413	NM_152713.5(STT3A):c.1555-97G>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296497	NM_152713.5(STT3A):c.1555-41_1555-40del	STT3A	Deletion (intron variant)	not provided	GBenign
Select item 381443	NM_152713.5(STT3A):c.1617A>G (p.Thr539=)	STT3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 389366	NM_152713.5(STT3A):c.1752C>G (p.Gly584=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 668214	NM_152713.5(STT3A):c.1774+8A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227449	NM_152713.5(STT3A):c.1775-259_1775-256dup	STT3A	Duplication (intron variant)	not provided	GBenign
Select item 1287809	NM_152713.5(STT3A):c.1775-8dup	STT3A	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 380017	NM_152713.5(STT3A):c.1911C>T (p.Cys637=)	STT3A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1166679	NM_152713.5(STT3A):c.1963+21_1963+26del	STT3A	Deletion (intron variant)	not provided	GBenign
Select item 1247180	NM_152713.5(STT3A):c.1964-285A>G	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259143	NM_152713.5(STT3A):c.1964-118A>C	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222471	NM_152713.5(STT3A):c.2080-51C>A	STT3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277254	NM_152713.5(STT3A):c.*81dup	STT3A	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1317672	NM_152713.5(STT3A):c.*81del	STT3A	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 91