ClinVar for Gene (Select 10735) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339587	NM_001042750.2(STAG2):c.1018-1G>A	STAG2	Single nucleotide variant (splice acceptor variant)	STAG2-related disorder	GPathogenic
Select item 3337634	NM_001042750.2(STAG2):c.2342C>T (p.Thr781Ile)	STAG2 (T781I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337633	NM_001042750.2(STAG2):c.2096+6T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3336956	NM_001042750.2(STAG2):c.626A>G (p.Asp209Gly)	STAG2 (D209G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3323049	NM_001042750.2(STAG2):c.1696C>G (p.Leu566Val)	STAG2 (L566V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323048	NM_001042750.2(STAG2):c.1687A>G (p.Ile563Val)	STAG2 (I563V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323047	NM_001042750.2(STAG2):c.331G>A (p.Asp111Asn)	STAG2 (D111N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257785	NM_001042750.2(STAG2):c.3724C>T (p.Arg1242Ter)	STAG2 (R1205* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 3257784	NM_001042750.2(STAG2):c.1541_1542del (p.Thr514fs)	STAG2 (T514fs)	Deletion (frameshift variant)	Neoplasm	OLikely oncogenic
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 3246418	NC_000023.10:g.(?_122617542)_(123834035_?)dup	GRIA3, SH2D1A +4 more	Duplication	not provided	GPathogenic
Select item 3246407	NC_000023.10:g.(?_123164791)_(123234447_?)del	STAG2	Deletion	not provided	GPathogenic
Select item 3246365	NC_000023.10:g.(?_122387134)_(123234447_?)dup	GRIA3, STAG2 +2 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3236628	NM_001042750.2(STAG2):c.2360C>G (p.Ala787Gly)	STAG2 (A787G)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 3236420	NM_001042750.2(STAG2):c.363T>A (p.Phe121Leu)	STAG2 (F121L)	Single nucleotide variant (missense variant)	Holoprosencephaly 13, X-linked	GUncertain significance
Select item 3235805	NM_001042750.2(STAG2):c.1898C>G (p.Ser633Cys)	STAG2 (S633C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235730	NM_001042750.2(STAG2):c.1836A>G (p.Leu612=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3170873	NM_001042750.2(STAG2):c.1322A>G (p.Asp441Gly)	STAG2 (D441G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3065069	NM_001042750.2(STAG2):c.1811G>C (p.Arg604Pro)	STAG2 (R604P)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3062122	NM_001042750.2(STAG2):c.2580_2582del (p.Arg862del)	STAG2 (R862del)	Deletion (inframe_deletion)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 3058952	NM_001042750.2(STAG2):c.2097-7_2097-5del	STAG2	Deletion (intron variant)	STAG2-related disorder	GBenign
Select item 3054459	NM_001042750.2(STAG2):c.1266G>T (p.Arg422=)	STAG2	Single nucleotide variant (synonymous variant)	STAG2-related disorder	GLikely benign
Select item 3044480	NM_001042750.2(STAG2):c.2097-3C>A	STAG2	Single nucleotide variant (intron variant)	Mullegama-Klein-Martinez syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3032178	NM_001042750.2(STAG2):c.1535-12_1535-3dup	STAG2	Duplication (intron variant)	STAG2-related disorder	GLikely benign
Select item 3024656	GRCh37/hg19 Xq25(chrX:122744787-123234447)x2	STAG2, THOC2 +1 more	Copy number gain	not provided	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3022524	NM_001042750.2(STAG2):c.1926A>G (p.Glu642=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3019837	NM_001042750.2(STAG2):c.1152T>C (p.Tyr384=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012310	NM_001042750.2(STAG2):c.3344T>C (p.Met1115Thr)	STAG2 (M1115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008511	NM_001042750.2(STAG2):c.1776T>C (p.Pro592=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007224	NM_001042750.2(STAG2):c.3579-12A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006646	NM_001042750.2(STAG2):c.1709C>T (p.Ala570Val)	STAG2 (A570V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3004454	NM_001042750.2(STAG2):c.1170A>G (p.Ala390=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002942	NM_001042750.2(STAG2):c.1038A>G (p.Lys346=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997014	NM_001042750.2(STAG2):c.124-16C>T	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994597	NM_001042750.2(STAG2):c.2427G>A (p.Met809Ile)	STAG2 (M809I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992084	NM_001042750.2(STAG2):c.1304+5A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2991417	NM_001042750.2(STAG2):c.3278-19C>T	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986652	NM_001042750.2(STAG2):c.1035C>A (p.Leu345=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984294	NM_001042750.2(STAG2):c.676T>A (p.Leu226Met)	STAG2 (L226M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984006	NM_001042750.2(STAG2):c.1638+7C>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983934	NM_001042750.2(STAG2):c.1908C>T (p.Tyr636=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982133	NM_001042750.2(STAG2):c.3711A>C (p.Pro1237=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980844	NM_001042750.2(STAG2):c.289-14del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 2979728	NM_001042750.2(STAG2):c.385+14A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974037	NM_001042750.2(STAG2):c.2826C>T (p.Ser942=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973875	NM_001042750.2(STAG2):c.1821+25dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 2973600	NM_001042750.2(STAG2):c.2185-4A>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971841	NM_001042750.2(STAG2):c.2097-5del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 2968267	NM_001042750.2(STAG2):c.3147A>G (p.Leu1049=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967036	NM_001042750.2(STAG2):c.1018-3T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2959741	NM_001042750.2(STAG2):c.1535-4_1535-3del	STAG2	Deletion (intron variant)	STAG2-related disorder +1 more	GBenign
Select item 2959380	NM_001042750.2(STAG2):c.385+9T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959236	NM_001042750.2(STAG2):c.2949A>G (p.Lys983=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909884	NM_001042750.2(STAG2):c.2488T>C (p.Leu830=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2901481	NM_001042750.2(STAG2):c.463-7G>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898412	NM_001042750.2(STAG2):c.1941C>T (p.Phe647=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898411	NM_001042750.2(STAG2):c.152C>G (p.Ala51Gly)	STAG2 (A51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883038	NM_001042750.2(STAG2):c.44+10T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874837	NM_001042750.2(STAG2):c.2580G>C (p.Lys860Asn)	STAG2 (K860N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874519	NM_001042750.2(STAG2):c.1018-3_1018-2insTA	STAG2	Insertion (splice acceptor variant)	not provided	GUncertain significance
Select item 2871508	NM_001042750.2(STAG2):c.312A>G (p.Glu104=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855570	NM_001042750.2(STAG2):c.2026-3T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2855127	NM_001042750.2(STAG2):c.2358+14A>T	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852816	NM_001042750.2(STAG2):c.1802C>T (p.Thr601Ile)	STAG2 (T601I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852045	NM_001042750.2(STAG2):c.1618G>A (p.Gly540Arg)	STAG2 (G540R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849147	NM_001042750.2(STAG2):c.1758T>A (p.Thr586=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848623	NM_001042750.2(STAG2):c.2767C>T (p.Leu923=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846300	NM_001042750.2(STAG2):c.2655C>T (p.Ile885=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845866	NM_001042750.2(STAG2):c.3563A>G (p.Asn1188Ser)	STAG2 (N1188S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2845435	NM_001042750.2(STAG2):c.1998C>T (p.Asn666=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844586	NM_001042750.2(STAG2):c.1875T>C (p.Asp625=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843648	NM_001042750.2(STAG2):c.955T>A (p.Tyr319Asn)	STAG2 (Y319N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843041	NM_001042750.2(STAG2):c.2471A>C (p.Glu824Ala)	STAG2 (E824A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838284	NM_001042750.2(STAG2):c.1416+12G>T	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836850	NM_001042750.2(STAG2):c.261T>G (p.Val87=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836669	NM_001042750.2(STAG2):c.323A>G (p.His108Arg)	STAG2 (H108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836165	NM_001042750.2(STAG2):c.1451T>C (p.Met484Thr)	STAG2 (M484T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833674	NM_001042750.2(STAG2):c.976G>C (p.Asp326His)	STAG2 (D326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830004	NM_001042750.2(STAG2):c.1732-16T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829270	NM_001042750.2(STAG2):c.3394T>C (p.Leu1132=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823587	NM_001042750.2(STAG2):c.1304+5del	STAG2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2822672	NM_001042750.2(STAG2):c.2027G>A (p.Gly676Asp)	STAG2 (G676D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818780	NM_001042750.2(STAG2):c.1731+15A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815582	NM_001042750.2(STAG2):c.1914A>G (p.Ala638=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814924	NM_001042750.2(STAG2):c.3244C>T (p.Arg1082Trp)	STAG2 (R1082W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814603	NM_001042750.2(STAG2):c.812G>A (p.Arg271Gln)	STAG2 (R271Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811116	NM_001042750.2(STAG2):c.2025+19A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810766	NM_001042750.2(STAG2):c.868A>C (p.Lys290Gln)	STAG2 (K290Q)	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 2807606	NM_001042750.2(STAG2):c.3500A>G (p.Gln1167Arg)	STAG2 (Q1167R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2807021	NM_001042750.2(STAG2):c.1638+17C>T	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805885	NM_001042750.2(STAG2):c.1266G>A (p.Arg422=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805875	NM_001042750.2(STAG2):c.1108C>A (p.Arg370=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803274	NM_001042750.2(STAG2):c.3278-4C>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801697	NM_001042750.2(STAG2):c.2381T>C (p.Ile794Thr)	STAG2 (I794T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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