ClinVar for MedGen (Select 816697) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062323	NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)	STAG3 (E1125* +2 more)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 1802231	NM_001282717.2(STAG3):c.2221-1_2225delinsAC	STAG3	Indel (non-coding transcript variant +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 1709457	NM_001282717.2(STAG3):c.3369_3381del (p.Glu1124fs)	STAG3 (E1066fs +1 more)	Deletion (frameshift variant +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 1328923	NM_001282717.2(STAG3):c.1950C>A (p.Tyr650Ter)	STAG3 (Y592*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GPathogenic
Select item 1328922	NM_001282717.2(STAG3):c.291dup (p.Asn98fs)	STAG3 (N98fs)	Duplication (frameshift variant)	Premature ovarian failure 8	GPathogenic
Select item 1287786	NM_001282717.2(STAG3):c.1573+41C>G	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1243986	NM_001282717.2(STAG3):c.1293A>C (p.Pro431=)	STAG3	Single nucleotide variant (synonymous variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 1236675	NM_001282717.2(STAG3):c.48G>T (p.Leu16Phe)	STAG3 (L16F)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1230818	NM_001282717.2(STAG3):c.2445T>A (p.Ile815=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	Spermatogenic failure 61 +2 more	GBenign
Select item 1229759	NM_001282717.2(STAG3):c.1245-26T>C	STAG3	Single nucleotide variant (intron variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 1214010	NM_001282717.2(STAG3):c.2627G>A (p.Gly876Glu)	STAG3 (G818E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Premature ovarian failure 8	GUncertain significance
Select item 1183740	NM_001282717.2(STAG3):c.106A>C (p.Thr36Pro)	STAG3 (T36P)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 869148	NM_001282717.2(STAG3):c.1571del (p.Gln524fs)	STAG3 (Q466fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 8	GLikely pathogenic
Select item 692153	NM_001282717.2(STAG3):c.962G>A (p.Arg321His)	STAG3 (R263H +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GPathogenic/Likely pathogenic
Select item 430588	NM_001282717.2(STAG3):c.1573+5G>A	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8	GPathogenic
Select item 374000	NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter)	STAG3 (R926* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GLikely pathogenic
Select item 224903	NM_001282717.2(STAG3):c.1947_1948dup (p.Tyr650fs)	STAG3 (Y650fs +1 more)	Microsatellite (frameshift variant +1 more)	Premature ovarian failure 8	GPathogenic
Select item 126427	NM_001282717.2(STAG3):c.562del (p.Gln188fs)	STAG3 (Q130fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 8	GPathogenic