STAG2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1031012	NM_001042750.2(STAG2):c.5T>C (p.Ile2Thr)	STAG2 (I2T)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 1900255	NM_001042750.2(STAG2):c.22C>A (p.Pro8Thr)	STAG2 (P8T)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1915600	NM_001042750.2(STAG2):c.35A>G (p.Asn12Ser)	STAG2 (N12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777374	NM_001042750.2(STAG2):c.41T>A (p.Leu14Gln)	STAG2 (L14Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924529	NM_001042750.2(STAG2):c.44+7A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883038	NM_001042750.2(STAG2):c.44+10T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230217	NM_001042750.2(STAG2):c.45-157A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2033767	NM_001042750.2(STAG2):c.45-15A>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664876	NM_001042750.2(STAG2):c.45-11T>C	STAG2	Single nucleotide variant (intron variant)	Mullegama-Klein-Martinez syndrome +2 more	GBenign/Likely benign
Select item 1622268	NM_001042750.2(STAG2):c.66T>C (p.Ser22=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670622	NM_001042750.2(STAG2):c.90C>T (p.Ile30=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269620	NM_001042750.2(STAG2):c.98A>G (p.Lys33Arg)	STAG2 (K33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1164890	NM_001042750.2(STAG2):c.123+4T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2034100	NM_001042750.2(STAG2):c.123+11A>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924656	NM_001042750.2(STAG2):c.123+13T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934329	NM_001042750.2(STAG2):c.123+18G>A	STAG2	Single nucleotide variant (intron 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 2006710	NM_001042750.2(STAG2):c.124-15G>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598782	NM_001042750.2(STAG2):c.124-7dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 1584004	NM_001042750.2(STAG2):c.124-13A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915384	NM_001042750.2(STAG2):c.143A>G (p.Lys48Arg)	STAG2 (K48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064270	NM_001042750.2(STAG2):c.145G>T (p.Gly49Cys)	STAG2 (G49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661353	NM_001042750.2(STAG2):c.149C>T (p.Pro50Leu)	STAG2 (P50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1506555	NM_001042750.2(STAG2):c.164A>G (p.Lys55Arg)	STAG2 (K55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 623239	NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter)	STAG2 (R69*)	Single nucleotide variant (nonsense)	Holoprosencephaly 13, X-linked +1 more	GPathogenic
Select item 1719120	NM_001042750.2(STAG2):c.206G>A (p.Arg69Gln)	STAG2 (R69Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836850	NM_001042750.2(STAG2):c.261T>G (p.Val87=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3347974	NM_001042750.2(STAG2):c.288G>C (p.Gln96His)	STAG2 (Q96H)	Single nucleotide variant (missense variant)	STAG2-related disorder	GUncertain significance
Select item 2635424	NM_001042750.2(STAG2):c.288+1G>T	STAG2	Single nucleotide variant (splice donor variant)	STAG2-related disorder	GLikely pathogenic
Select item 2980844	NM_001042750.2(STAG2):c.289-14del	STAG2	Deletion (intron variant)	not provided	GBenign
Select item 1342142	NM_001042750.2(STAG2):c.290C>T (p.Ser97Leu)	STAG2 (S97L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420009	NM_001042750.2(STAG2):c.291G>A (p.Ser97=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744708	NM_001042750.2(STAG2):c.294G>A (p.Val98=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716806	NM_001042750.2(STAG2):c.310G>C (p.Glu104Gln)	STAG2 (E104Q)	Single nucleotide variant (missense 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 2836669	NM_001042750.2(STAG2):c.323A>G (p.His108Arg)	STAG2 (H108R)	Single nucleotide variant (missense variant)	not provided	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 1947890	NM_001042750.2(STAG2):c.339A>G (p.Ala113=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807501	NM_001042750.2(STAG2):c.352dup (p.Ile118fs)	STAG2 (I118fs)	Duplication (frameshift variant)	Mullegama-Klein-Martinez syndrome	GPathogenic
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 2959380	NM_001042750.2(STAG2):c.385+9T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979728	NM_001042750.2(STAG2):c.385+14A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602317	NM_001042750.2(STAG2):c.386-15A>T	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317480	NM_001042750.2(STAG2):c.386-12T>G	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1605326	NM_001042750.2(STAG2):c.386-8A>T	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2047088	NM_001042750.2(STAG2):c.397G>A (p.Ala133Thr)	STAG2 (A133T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552335	NM_001042750.2(STAG2):c.399A>G (p.Ala133=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523189	NM_001042750.2(STAG2):c.418C>T (p.Gln140Ter)	STAG2 (Q140*)	Single nucleotide variant (nonsense)	STAG2-related disorder	GLikely pathogenic
Select item 1619704	NM_001042750.2(STAG2):c.426T>C (p.Ser142=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 864832	NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)	STAG2 (R146*)	Single nucleotide variant (nonsense)	Holoprosencephaly 13, X-linked	GPathogenic
Select item 1964327	NM_001042750.2(STAG2):c.456C>T (p.Phe152=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1900187	NM_001042750.2(STAG2):c.462+19T>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702846	NM_001042750.2(STAG2):c.463-19T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901481	NM_001042750.2(STAG2):c.463-7G>A	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718842	NM_001042750.2(STAG2):c.463-5T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1657174	NM_001042750.2(STAG2):c.463-3T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1717295	NM_001042750.2(STAG2):c.465T>G (p.Asp155Glu)	STAG2 (D155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523193	NM_001042750.2(STAG2):c.476A>G (p.Tyr159Cys)	STAG2 (Y159C)	Single nucleotide variant (missense variant)	STAG2-related disorder	GLikely pathogenic
Select item 1572960	NM_001042750.2(STAG2):c.480A>G (p.Pro160=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428624	NM_001042750.2(STAG2):c.501G>T (p.Gln167His)	STAG2 (Q167H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178905	NM_001042750.2(STAG2):c.540C>T (p.Gly180=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757541	NM_001042750.2(STAG2):c.541G>A (p.Val181Met)	STAG2 (V181M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 1609138	NM_001042750.2(STAG2):c.555A>G (p.Gln185=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323653	NM_001042750.2(STAG2):c.581_591del (p.Glu194fs)	STAG2 (E194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1031013	NM_001042750.2(STAG2):c.618A>G (p.Gly206=)	STAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1553633	NM_001042750.2(STAG2):c.630A>C (p.Ser210=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985957	NM_001042750.2(STAG2):c.631C>G (p.Gln211Glu)	STAG2 (Q211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2020019	NM_001042750.2(STAG2):c.636C>T (p.Val212=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580537	NM_001042750.2(STAG2):c.667+18T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2128911	NM_001042750.2(STAG2):c.668-15_668-10del	STAG2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1541226	NM_001042750.2(STAG2):c.668-17T>C	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803228	NM_001042750.2(STAG2):c.671T>C (p.Met224Thr)	STAG2 (M224T)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
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 2582346	NM_001042750.2(STAG2):c.715A>G (p.Ile239Val)	STAG2 (I239V)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 2076923	NM_001042750.2(STAG2):c.729T>C (p.Asn243=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777615	NM_001042750.2(STAG2):c.756G>A (p.Arg252=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285452	NM_001042750.2(STAG2):c.761A>C (p.Lys254Thr)	STAG2 (K254T)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 1601134	NM_001042750.2(STAG2):c.774A>G (p.Lys258=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1358100	NM_001042750.2(STAG2):c.782A>G (p.Asn261Ser)	STAG2 (N261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441729	NM_001042750.2(STAG2):c.788G>A (p.Arg263Lys)	STAG2 (R263K)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 2726787	NM_001042750.2(STAG2):c.790C>T (p.Leu264=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318909	NM_001042750.2(STAG2):c.797_798delinsAA (p.Leu266Gln)	STAG2 (L266Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1602597	NM_001042750.2(STAG2):c.801G>C (p.Leu267=)	STAG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1477075	NM_001042750.2(STAG2):c.811C>T (p.Arg271Trp)	STAG2 (R271W)	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 1638902	NM_001042750.2(STAG2):c.819+13A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287042	NM_001042750.2(STAG2):c.819+196G>A	STAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658059	NM_001042750.2(STAG2):c.820-19A>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615485	NM_001042750.2(STAG2):c.820-5dup	STAG2	Duplication (intron variant)	not provided	GBenign
Select item 1325145	NM_001042750.2(STAG2):c.820-8_822del	STAG2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2059758	NM_001042750.2(STAG2):c.820-7T>G	STAG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010280	NM_001042750.2(STAG2):c.851T>G (p.Met284Arg)	STAG2 (M284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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