"STAG3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 720655	NM_001282717.2(STAG3):c.1467+3G>A	STAG3	Single nucleotide variant (intron variant)	STAG3-related disorder +1 more	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 3052700	NM_001282717.2(STAG3):c.2823G>A (p.Gln941=)	STAG3	Single nucleotide variant (synonymous variant)	STAG3-related disorder	GLikely benign
Select item 727888	NM_001282717.2(STAG3):c.3306C>A (p.Ile1102=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder +1 more	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 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 3041482	NM_001282717.2(STAG3):c.3426C>T (p.Val1142=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder	GLikely benign