Related gene-specific medical variations for Gene (Select 10735) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360794	NM_001042750.2(STAG2):c.1283C>G (p.Ala428Gly)	STAG2 (A428G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360581	NM_001042750.2(STAG2):c.721A>G (p.Met241Val)	STAG2 (M241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360237	NM_001042750.2(STAG2):c.2222T>A (p.Ile741Asn)	STAG2 (I741N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359692	NM_001042750.2(STAG2):c.3306G>A (p.Met1102Ile)	STAG2 (M1102I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358932	NM_001042750.2(STAG2):c.1788_1789insGG (p.Leu597fs)	STAG2 (L597fs)	Insertion (frameshift variant)	Mullegama-Klein-Martinez syndrome	GPathogenic
Select item 3246407	NC_000023.10:g.(?_123164791)_(123234447_?)del	STAG2	Deletion	not provided	GPathogenic
Select item 3236628	NM_001042750.2(STAG2):c.2360C>G (p.Ala787Gly)	STAG2 (A787G)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 3065069	NM_001042750.2(STAG2):c.1811G>C (p.Arg604Pro)	STAG2 (R604P)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 3062122	NM_001042750.2(STAG2):c.2580_2582del (p.Arg862del)	STAG2 (R862del)	Deletion (inframe_deletion)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 2690162	NM_001042750.2(STAG2):c.3275T>A (p.Leu1092His)	STAG2 (L1092H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685719	GRCh37/hg19 Xq25(chrX:123118140-123166691)x1	STAG2	Copy number loss	not provided	GPathogenic
Select item 2683911	NM_001042750.2(STAG2):c.2920C>T (p.His974Tyr)	STAG2 (H974Y)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
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 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 2441833	NM_001042750.2(STAG2):c.867del (p.Phe289fs)	STAG2 (F289fs)	Deletion (frameshift variant)	Holoprosencephaly 13, X-linked	GPathogenic
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 2436502	NM_001042750.2(STAG2):c.1975G>A (p.Asp659Asn)	STAG2 (D659N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326915	NM_001042750.2(STAG2):c.1412_1416+9del	STAG2	Deletion (splice donor variant)	Holoprosencephaly 13, X-linked	GPathogenic
Select item 1325145	NM_001042750.2(STAG2):c.820-8_822del	STAG2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1323653	NM_001042750.2(STAG2):c.581_591del (p.Glu194fs)	STAG2 (E194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 980323	GRCh37/hg19 Xq25(chrX:123077962-123237001)x4	STAG2	Copy number gain	not provided	GPathogenic
Select item 816385	GRCh37/hg19 Xq25(chrX:123210290-123350854)x3	STAG2	Copy number gain	not provided	GUncertain significance
Select item 685926	GRCh37/hg19 Xq25(chrX:123103925-123476504)x2	STAG2	Copy number gain	not provided	GUncertain significance
Select item 564895	GRCh37/hg19 Xq25(chrX:123069172-123359785)x3	STAG2	Copy number gain	not provided	GUncertain significance

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Links from Gene

Items: 24