"PreventionGenetics, part of Exact Sciences"[submitter] AND "STAG2"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1506555	NM_001042750.2(STAG2):c.164A>G (p.Lys55Arg)	STAG2 (K55R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635424	NM_001042750.2(STAG2):c.288+1G>T	STAG2	Single nucleotide variant (splice donor variant)	STAG2-related condition	GLikely pathogenic
Select item 1605326	NM_001042750.2(STAG2):c.386-8A>T	STAG2	Single nucleotide variant (intron variant)	STAG2-related condition +1 more	GBenign
Select item 1612997	NM_001042750.2(STAG2):c.1101T>C (p.Phe367=)	STAG2	Single nucleotide variant (synonymous variant)	Mullegama-Klein-Martinez syndrome +3 more	GBenign/Likely benign
Select item 1623590	NM_001042750.2(STAG2):c.1218T>C (p.Thr406=)	STAG2	Single nucleotide variant (synonymous variant)	STAG2-related condition +1 more	GLikely benign
Select item 3054459	NM_001042750.2(STAG2):c.1266G>T (p.Arg422=)	STAG2	Single nucleotide variant (synonymous variant)	STAG2-related condition	GLikely benign
Select item 2636965	NM_001042750.2(STAG2):c.1381G>A (p.Val461Ile)	STAG2 (V461I)	Single nucleotide variant (missense variant)	STAG2-related condition	GUncertain significance
Select item 3032178	NM_001042750.2(STAG2):c.1535-12_1535-3dup	STAG2	Duplication (intron variant)	STAG2-related condition	GLikely benign
Select item 2959741	NM_001042750.2(STAG2):c.1535-4_1535-3del	STAG2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1637301	NM_001042750.2(STAG2):c.1535-12_1535-3del	STAG2	Deletion (intron variant)	STAG2-related condition +1 more	GBenign/Likely benign
Select item 741336	NM_001042750.2(STAG2):c.1535-2dup	STAG2	Duplication (splice acceptor variant)	STAG2-related condition +1 more	GBenign/Likely benign
Select item 389451	NM_001042749.2(STAG2):c.1535-3T>A	STAG2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 2628529	NM_001042750.2(STAG2):c.1850G>A (p.Arg617Gln)	STAG2 (R617Q)	Single nucleotide variant (missense variant)	STAG2-related condition	GUncertain significance
Select item 1545176	NM_001042750.2(STAG2):c.1977T>C (p.Asp659=)	STAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630722	NM_001042750.2(STAG2):c.2086G>A (p.Ala696Thr)	STAG2 (A696T)	Single nucleotide variant (missense variant)	STAG2-related condition	GUncertain significance
Select item 3058952	NM_001042750.2(STAG2):c.2097-7_2097-5del	STAG2	Deletion (intron variant)	STAG2-related condition	GBenign
Select item 3044480	NM_001042750.2(STAG2):c.2097-3C>A	STAG2	Single nucleotide variant (intron variant)	STAG2-related condition	GLikely benign
Select item 2715974	NM_001042750.2(STAG2):c.3278-9C>A	STAG2	Single nucleotide variant (intron variant)	STAG2-related condition +1 more	GLikely benign
Select item 709967	NM_001042750.2(STAG2):c.3360A>G (p.Gln1120=)	STAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 20