"GeneDx"[submitter] AND "STAG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 145170	GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	ACTRT1, DCAF12L1 +19 more	Copy number gain	See cases	GPathogenic
Select item 1243394	NM_001042750.2(STAG2):c.-97-145del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 2501931	NM_001042750.2(STAG2):c.-97-3A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1230217	NM_001042750.2(STAG2):c.45-157A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663029	NM_001042750.2(STAG2):c.166G>A (p.Gly56Ser)	STAG2 (G56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316046	NM_001042750.2(STAG2):c.284T>C (p.Met95Thr)	STAG2 (M95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368824	NM_001042750.2(STAG2):c.316T>A (p.Tyr106Asn)	STAG2 (Y106N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317480	NM_001042750.2(STAG2):c.386-12T>G	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368688	NM_001042750.2(STAG2):c.457G>A (p.Asp153Asn)	STAG2 (D153N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321053	NM_001042750.2(STAG2):c.461A>G (p.Glu154Gly)	STAG2 (E154G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321129	NM_001042750.2(STAG2):c.551G>A (p.Arg184Gln)	STAG2 (R184Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318909	NM_001042750.2(STAG2):c.797_798delinsAA (p.Leu266Gln)	STAG2 (L266Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1287042	NM_001042750.2(STAG2):c.819+196G>A	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315599	NM_001042750.2(STAG2):c.862A>G (p.Ile288Val)	STAG2 (I288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575837	NM_001042750.2(STAG2):c.893+5G>T	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1276436	NM_001042750.2(STAG2):c.894-9C>T	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238471	NM_001042750.2(STAG2):c.1017+125T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241680	NM_001042750.2(STAG2):c.1018-3dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 1283746	NM_001042750.2(STAG2):c.1018-3del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 3365252	NM_001042750.2(STAG2):c.1151A>T (p.Tyr384Phe)	STAG2 (Y384F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274707	NM_001042750.2(STAG2):c.1197-123_1197-122dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 1244536	NM_001042750.2(STAG2):c.1197-122dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 2502714	NM_001042750.2(STAG2):c.1237G>T (p.Val413Phe)	STAG2 (V413F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708672	NM_001042750.2(STAG2):c.1264C>T (p.Arg422Trp)	STAG2 (R422W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253554	NM_001042750.2(STAG2):c.1298A>G (p.Tyr433Cys)	STAG2 (Y433C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574436	NM_001042750.2(STAG2):c.1315C>T (p.Arg439Cys)	STAG2 (R439C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369328	NM_001042750.2(STAG2):c.1394T>C (p.Val465Ala)	STAG2 (V465A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248581	NM_001042750.2(STAG2):c.1416+95A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256647	NM_001042750.2(STAG2):c.1417-207T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237421	NM_001042750.2(STAG2):c.1417-39A>C	STAG2	Single nucleotide variant (intron variant)	Holoprosencephaly 13, X-linked +2 more	GBenign
Select item 389451	NM_001042749.2(STAG2):c.1535-3T>A	STAG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1212617	NM_001042750.2(STAG2):c.1570A>G (p.Ile524Val)	STAG2 (I524V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504436	NM_001042750.2(STAG2):c.1595C>T (p.Ala532Val)	STAG2 (A532V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2662621	NM_001042750.2(STAG2):c.1651A>G (p.Lys551Glu)	STAG2 (K551E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190243	NM_001042750.2(STAG2):c.1758del (p.Asn587fs)	STAG2 (N587fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1242970	NM_001042750.2(STAG2):c.1822-141T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315844	NM_001042750.2(STAG2):c.1822-16TAT[2]	STAG2	Microsatellite (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2581835	NM_001042750.2(STAG2):c.1923T>A (p.Asn641Lys)	STAG2 (N641K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574992	NM_001042750.2(STAG2):c.1933A>G (p.Thr645Ala)	STAG2 (T645A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710578	NM_001042750.2(STAG2):c.1960A>G (p.Arg654Gly)	STAG2 (R654G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320801	NM_001042750.2(STAG2):c.1999C>T (p.Arg667Trp)	STAG2 (R667W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258447	NM_001042750.2(STAG2):c.2097-5dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 1277360	NM_001042750.2(STAG2):c.2097-6_2097-5del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 1320706	NM_001042750.2(STAG2):c.2175G>A (p.Met725Ile)	STAG2 (M725I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442754	NM_001042750.2(STAG2):c.2176C>T (p.Pro726Ser)	STAG2 (P726S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318979	NM_001042750.2(STAG2):c.2176C>A (p.Pro726Thr)	STAG2 (P726T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505731	NM_001042750.2(STAG2):c.2206T>C (p.Cys736Arg)	STAG2 (C736R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363769	NM_001042750.2(STAG2):c.2207G>C (p.Cys736Ser)	STAG2 (C736S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318577	NM_001042750.2(STAG2):c.2227T>A (p.Trp743Arg)	STAG2 (W743R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232900	NM_001042750.2(STAG2):c.2266-93_2266-92insATAT	STAG2	Microsatellite (intron variant)	not provided	GBenign
Select item 1398437	NM_001042750.2(STAG2):c.2278C>T (p.Arg760Cys)	STAG2 (R760C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373659	NM_001042750.2(STAG2):c.2294T>C (p.Met765Thr)	STAG2 (M765T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331160	NM_001042750.2(STAG2):c.2309A>G (p.Gln770Arg)	STAG2 (Q770R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707100	NM_001042750.2(STAG2):c.2314T>A (p.Cys772Ser)	STAG2 (C772S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369067	NM_001042750.2(STAG2):c.2332A>G (p.Asn778Asp)	STAG2 (N778D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290243	NM_001042750.2(STAG2):c.2359-7del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 3371843	NM_001042750.2(STAG2):c.2504T>C (p.Ile835Thr)	STAG2 (I835T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810418	NM_001042750.2(STAG2):c.2518G>A (p.Asp840Asn)	STAG2 (D840N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723709	NM_001042750.2(STAG2):c.2536G>A (p.Gly846Ser)	STAG2 (G846S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320870	NM_001042750.2(STAG2):c.2537G>T (p.Gly846Val)	STAG2 (G846V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343910	NM_001042750.2(STAG2):c.2575C>T (p.His859Tyr)	STAG2 (H859Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327878	NM_001042750.2(STAG2):c.2674-13A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2571668	NM_001042750.2(STAG2):c.2771A>G (p.Gln924Arg)	STAG2 (Q924R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371137	NM_001042750.2(STAG2):c.2803G>T (p.Gly935Cys)	STAG2 (G935C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316373	NM_001042750.2(STAG2):c.2837G>T (p.Ser946Ile)	STAG2 (S946I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807502	NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys)	STAG2 (R954C)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome +1 more	GConflicting classifications of pathogenicity
Select item 807812	NM_001042750.2(STAG2):c.2897C>G (p.Thr966Arg)	STAG2 (T966R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202436	NM_001042750.2(STAG2):c.2924+5T>A	STAG2	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1233151	NM_001042750.2(STAG2):c.2925-214TG[9]	STAG2	Microsatellite (intron variant)	not provided	GBenign
Select item 3370787	NM_001042750.2(STAG2):c.2930G>A (p.Gly977Asp)	STAG2 (G977D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316065	NM_001042750.2(STAG2):c.3016T>C (p.Phe1006Leu)	STAG2 (F1006L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864831	NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)	STAG2 (R1012*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1230979	NM_001042750.2(STAG2):c.3053+128A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579572	NM_001042750.2(STAG2):c.3211C>T (p.Arg1071Trp)	STAG2 (R1071W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320784	NM_001042750.2(STAG2):c.3232T>G (p.Ser1078Ala)	STAG2 (S1078A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368490	NM_001042750.2(STAG2):c.3415A>G (p.Met1139Val)	STAG2 (M1139V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372445	NM_001042750.2(STAG2):c.3533C>G (p.Ala1178Gly)	STAG2 (A1178G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801017	NM_001042750.2(STAG2):c.3584G>A (p.Arg1195His)	STAG2 (R1158H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412901	NM_001042750.2(STAG2):c.3613G>A (p.Glu1205Lys)	STAG2 (E1168K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702626	NM_001042750.2(STAG2):c.3665T>C (p.Leu1222Pro)	STAG2 (L1185P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253984	GRCh37/hg19 Xq25(chrX:122992963-123211555)x2	STAG2, XIAP	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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