ClinVar for MedGen (Select 1714826) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584592	NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs)	STAG2 (S1075fs)	Duplication (frameshift variant)	Holoprosencephaly 13, X-linked +1 more	GLikely pathogenic
Select item 2441833	NM_001042750.2(STAG2):c.867del (p.Phe289fs)	STAG2 (F289fs)	Deletion (frameshift variant)	Holoprosencephaly 13, X-linked	GPathogenic
Select item 2431611	NM_001042750.2(STAG2):c.1680G>A (p.Arg560=)	STAG2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 13, X-linked	GUncertain significance
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 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 1326915	NM_001042750.2(STAG2):c.1412_1416+9del	STAG2	Deletion (splice donor variant)	Holoprosencephaly 13, X-linked	GPathogenic
Select item 1237421	NM_001042750.2(STAG2):c.1417-39A>C	STAG2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1077153	NM_001042750.2(STAG2):c.1535-3del	STAG2	Deletion (intron variant)	Holoprosencephaly 13, X-linked +1 more	GBenign/Likely 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 864831	NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)	STAG2 (R1012*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 367872	NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)	SH2D1A	Single nucleotide variant (synonymous variant)	Mullegama-Klein-Martinez syndrome +4 more	GBenign/Likely benign