ClinVar for Gene (Select 10734) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170889	NM_001282717.2(STAG3):c.785G>A (p.Arg262His)	STAG3 (R262H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170887	NM_001282717.2(STAG3):c.3460C>A (p.Gln1154Lys)	STAG3 (Q1153K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170885	NM_001282717.2(STAG3):c.3241C>T (p.Pro1081Ser)	STAG3 (P1081S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170884	NM_001282717.2(STAG3):c.3076C>T (p.Leu1026Phe)	STAG3 (L1026F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170883	NM_001282717.2(STAG3):c.2768A>G (p.His923Arg)	STAG3 (H923R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170882	NM_001282717.2(STAG3):c.2732A>T (p.Glu911Val)	STAG3 (E911V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170881	NM_001282717.2(STAG3):c.257A>G (p.His86Arg)	STAG3 (H86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3170880	NM_001282717.2(STAG3):c.248G>C (p.Arg83Pro)	STAG3 (R83P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170879	NM_001282717.2(STAG3):c.2312C>T (p.Ser771Leu)	STAG3 (S713L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3170878	NM_001282717.2(STAG3):c.2162A>G (p.Tyr721Cys)	STAG3 (Y663C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170877	NM_001282717.2(STAG3):c.1711G>A (p.Asp571Asn)	LOC129998914, STAG3 (D571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170876	NM_001282717.2(STAG3):c.1313G>A (p.Arg438Gln)	STAG3 (R380Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170875	NM_001282717.2(STAG3):c.1129A>C (p.Thr377Pro)	STAG3 (T377P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062323	NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)	STAG3 (E1125* +2 more)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 3053777	NM_001282717.2(STAG3):c.1011G>A (p.Thr337=)	STAG3	Single nucleotide variant (synonymous variant)	STAG3-related disorder	GLikely benign
Select item 3053376	NM_001282717.2(STAG3):c.1066-9C>T	STAG3	Single nucleotide variant (intron variant)	STAG3-related disorder	GLikely benign
Select item 3053313	NM_001282717.2(STAG3):c.3399G>A (p.Leu1133=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder	GLikely benign
Select item 3052700	NM_001282717.2(STAG3):c.2823G>A (p.Gln941=)	STAG3	Single nucleotide variant (synonymous variant)	STAG3-related disorder	GLikely benign
Select item 3052367	NM_001282717.2(STAG3):c.2208G>A (p.Glu736=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder	GLikely benign
Select item 3041482	NM_001282717.2(STAG3):c.3426C>T (p.Val1142=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder	GLikely benign
Select item 3039847	NM_001282717.2(STAG3):c.3308C>T (p.Pro1103Leu)	STAG3 (P1045L +1 more)	Single nucleotide variant (missense variant +1 more)	STAG3-related disorder	GLikely benign
Select item 3026104	NM_001282717.2(STAG3):c.11C>T (p.Pro4Leu)	STAG3 (P4L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2673114	NM_001282717.2(STAG3):c.3272C>T (p.Ser1091Leu)	STAG3 (S1033L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2657746	NM_001282717.2(STAG3):c.3633C>T (p.Arg1211=)	STAG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657745	NM_001282717.2(STAG3):c.3409C>G (p.Gln1137Glu)	STAG3 (Q1079E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657744	NM_001282717.2(STAG3):c.3315G>C (p.Thr1105=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657743	NM_001282717.2(STAG3):c.1999C>T (p.Arg667Cys)	STAG3 (R609C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632675	NM_001282717.2(STAG3):c.709del (p.Leu237fs)	STAG3 (L179fs +1 more)	Deletion (frameshift variant)	STAG3-related disorder	GLikely pathogenic
Select item 2623827	NM_001282717.2(STAG3):c.1745C>G (p.Pro582Arg)	LOC129998914, STAG3 (P582R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614094	NM_001282717.2(STAG3):c.860G>A (p.Arg287His)	STAG3 (R229H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604526	NM_001282717.2(STAG3):c.3488C>T (p.Ser1163Leu)	LOC129998915, STAG3 (S1162L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597826	NM_001282717.2(STAG3):c.994A>G (p.Met332Val)	STAG3 (M274V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595290	NM_001282717.2(STAG3):c.953C>T (p.Pro318Leu)	STAG3 (P318L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591817	NM_001282717.2(STAG3):c.3584G>A (p.Arg1195Gln)	STAG3 (R1195Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589984	NM_001282717.2(STAG3):c.3367A>G (p.Lys1123Glu)	STAG3 (K1065E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2569598	NM_001282717.2(STAG3):c.3002A>G (p.Asn1001Ser)	STAG3 (N943S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2568662	NM_001282717.2(STAG3):c.2351G>C (p.Cys784Ser)	STAG3 (C784S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559524	NM_001282717.2(STAG3):c.3142C>T (p.Pro1048Ser)	STAG3 (P1048S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557058	NM_001282717.2(STAG3):c.1850G>A (p.Arg617His)	STAG3 (R559H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552544	NM_001282717.2(STAG3):c.3310C>T (p.Pro1104Ser)	STAG3 (P1046S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541773	NM_001282717.2(STAG3):c.1366G>C (p.Glu456Gln)	STAG3 (E398Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537856	NM_001282717.2(STAG3):c.2012T>C (p.Val671Ala)	STAG3 (V671A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526573	NM_001282717.2(STAG3):c.615C>A (p.Ser205Arg)	STAG3 (S147R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521039	NM_001282717.2(STAG3):c.2323G>A (p.Asp775Asn)	STAG3 (D717N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520884	NM_001282717.2(STAG3):c.3053G>A (p.Arg1018Gln)	STAG3 (R1018Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513242	NM_001282717.2(STAG3):c.1984C>T (p.Arg662Trp)	STAG3 (R604W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511456	NM_001282717.2(STAG3):c.1688C>A (p.Ser563Tyr)	LOC129998914, STAG3 (S563Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511413	NM_001282717.2(STAG3):c.958A>G (p.Ile320Val)	STAG3 (I262V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496195	NM_001282717.2(STAG3):c.3245C>G (p.Ala1082Gly)	STAG3 (A1082G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479270	NM_001282717.2(STAG3):c.1271C>T (p.Ala424Val)	STAG3 (A366V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478609	NM_001282717.2(STAG3):c.59C>T (p.Ser20Phe)	STAG3 (S20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475368	NM_001282717.2(STAG3):c.1977C>G (p.Phe659Leu)	STAG3 (F601L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470194	NM_001282717.2(STAG3):c.346G>C (p.Asp116His)	STAG3 (D116H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 2404297	NM_001282717.2(STAG3):c.2092A>T (p.Asn698Tyr)	STAG3 (N640Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399712	NM_001282717.2(STAG3):c.1417G>A (p.Ala473Thr)	STAG3 (A473T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399360	NM_001282717.2(STAG3):c.2546C>T (p.Pro849Leu)	STAG3 (P791L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2393207	NM_001282717.2(STAG3):c.3550G>C (p.Glu1184Gln)	STAG3 (E1183Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391526	NM_001282717.2(STAG3):c.2410A>G (p.Ser804Gly)	STAG3 (S804G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360170	NM_001282717.2(STAG3):c.833A>C (p.Glu278Ala)	STAG3 (E278A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354490	NM_001282717.2(STAG3):c.172C>A (p.Arg58Ser)	STAG3 (R58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349441	NM_001282717.2(STAG3):c.2608C>T (p.Arg870Trp)	STAG3 (R812W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326578	NM_001282717.2(STAG3):c.3356T>C (p.Leu1119Pro)	STAG3 (L1061P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321786	NM_001282717.2(STAG3):c.412A>G (p.Ile138Val)	STAG3 (I138V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316258	NM_001282717.2(STAG3):c.2329A>T (p.Met777Leu)	STAG3 (M719L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315161	NM_001282717.2(STAG3):c.3294G>T (p.Gln1098His)	STAG3 (Q1098H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304573	NM_001282717.2(STAG3):c.3447G>C (p.Arg1149Ser)	STAG3 (R1090S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292772	NM_001282717.2(STAG3):c.2150G>A (p.Arg717His)	STAG3 (R659H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284894	NM_001282717.2(STAG3):c.2434C>T (p.Pro812Ser)	STAG3 (P754S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277756	NM_001282717.2(STAG3):c.68C>T (p.Ser23Phe)	STAG3 (S23F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272753	NM_001282717.2(STAG3):c.1267G>A (p.Asp423Asn)	STAG3 (D365N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260777	NM_001282717.2(STAG3):c.1894G>C (p.Val632Leu)	STAG3 (V574L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229819	NM_001282717.2(STAG3):c.1330G>A (p.Ala444Thr)	STAG3 (A386T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225329	NM_001282717.2(STAG3):c.424G>A (p.Gly142Arg)	STAG3 (G142R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217653	NM_001282717.2(STAG3):c.104A>G (p.His35Arg)	STAG3 (H35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204410	NM_001282717.2(STAG3):c.2099C>T (p.Ala700Val)	STAG3 (A700V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1802231	NM_001282717.2(STAG3):c.2221-1_2225delinsAC	STAG3	Indel (non-coding transcript variant +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 1709457	NM_001282717.2(STAG3):c.3369_3381del (p.Glu1124fs)	STAG3 (E1066fs +1 more)	Deletion (frameshift variant +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708339	NM_001282717.2(STAG3):c.2734A>T (p.Thr912Ser)	STAG3 (T854S +1 more)	Single nucleotide variant (missense variant)	Hypergonadotropic hypogonadism	GUncertain significance
Select item 1708338	NM_001282717.2(STAG3):c.623A>G (p.Tyr208Cys)	STAG3 (Y150C +1 more)	Single nucleotide variant (missense variant)	Hypergonadotropic hypogonadism	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	SPACDR, ZKSCAN1 +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1328929	NM_001282717.2(STAG3):c.3381_3384del (p.Glu1128fs)	STAG3 (E1070fs +1 more)	Deletion (frameshift variant +1 more)	PRIMARY OVARIAN FAILURE 8	GPathogenic
Select item 1328925	NM_001282717.2(STAG3):c.2394+1G>A	STAG3	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 61	GPathogenic
Select item 1328924	NM_001282717.2(STAG3):c.1936dup (p.Ala646fs)	STAG3 (A588fs +1 more)	Duplication (frameshift variant +1 more)	Spermatogenic failure 61	GPathogenic
Select item 1328923	NM_001282717.2(STAG3):c.1950C>A (p.Tyr650Ter)	STAG3 (Y592*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GPathogenic
Select item 1328922	NM_001282717.2(STAG3):c.291dup (p.Asn98fs)	STAG3 (N98fs)	Duplication (frameshift variant)	Premature ovarian failure 8	GPathogenic
Select item 1325148	NM_001282717.2(STAG3):c.3106C>T (p.Gln1036Ter)	STAG3 (Q1036* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1290460	NM_001282717.2(STAG3):c.867+153A>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289595	NM_001282717.2(STAG3):c.1678-156_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1287786	NM_001282717.2(STAG3):c.1573+41C>G	STAG3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1283708	NM_001282717.2(STAG3):c.3601-45G>A	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

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