"GeneDx"[submitter] AND "STAG3"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 1267511	NM_001282717.2(STAG3):c.-64-97G>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236675	NM_001282717.2(STAG3):c.48G>T (p.Leu16Phe)	STAG3 (L16F)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1183740	NM_001282717.2(STAG3):c.106A>C (p.Thr36Pro)	STAG3 (T36P)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1240867	NM_001282717.2(STAG3):c.116+22T>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269361	NM_001282717.2(STAG3):c.116+225dup	STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1254489	NM_001282717.2(STAG3):c.117-172_117-171dup	STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1236920	NM_001282717.2(STAG3):c.117-189C>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239681	NM_001282717.2(STAG3):c.219+71G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277185	NM_001282717.2(STAG3):c.220-64C>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280663	NM_001282717.2(STAG3):c.220-63G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272177	NM_001282717.2(STAG3):c.336+193T>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275664	NM_001282717.2(STAG3):c.337-109G>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451295	NM_001282717.2(STAG3):c.337-2A>C	STAG3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1264565	NM_001282717.2(STAG3):c.715+180C>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258895	NM_001282717.2(STAG3):c.716-104G>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290460	NM_001282717.2(STAG3):c.867+153A>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451296	NM_001282717.2(STAG3):c.1065+1G>C	STAG3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1251614	NM_001282717.2(STAG3):c.1066-186C>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178875	NM_001282717.2(STAG3):c.1244+134_1244+143del	STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1277068	NM_001282717.2(STAG3):c.1245-41A>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229759	NM_001282717.2(STAG3):c.1245-26T>C	STAG3	Single nucleotide variant (intron variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 1243986	NM_001282717.2(STAG3):c.1293A>C (p.Pro431=)	STAG3	Single nucleotide variant (synonymous variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 1287786	NM_001282717.2(STAG3):c.1573+41C>G	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1289595	NM_001282717.2(STAG3):c.1678-156_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1274841	NM_001282717.2(STAG3):c.1678-155_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1276666	NM_001282717.2(STAG3):c.1678-154del	LOC129998914, STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1239897	NM_001282717.2(STAG3):c.1678-67A>G	LOC129998914, STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230818	NM_001282717.2(STAG3):c.2445T>A (p.Ile815=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	Spermatogenic failure 61 +2 more	GBenign
Select item 1280303	NM_001282717.2(STAG3):c.2700+26A>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244111	NM_001282717.2(STAG3):c.2803-206C>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232360	NM_001282717.2(STAG3):c.2803-203T>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283667	NM_001282717.2(STAG3):c.3081-38G>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281740	NM_001282717.2(STAG3):c.3601-154G>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283708	NM_001282717.2(STAG3):c.3601-45G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282234	NM_001282717.2(STAG3):c.3672+35C>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222686	NM_001282717.2(STAG3):c.*198A>T	STAG3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 39