ClinVar for MedGen (Select 934787) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572901	NM_177433.3(MAGED2):c.1208+96G>A	MAGED2	Single nucleotide variant (intron variant)	Bartter disease type 5	GUncertain significance
Select item 3382890	NM_177433.3(MAGED2):c.1337G>A (p.Arg446His)	MAGED2 (R446H)	Single nucleotide variant (missense variant)	Bartter disease type 5	GUncertain significance
Select item 3061845	NM_177433.3(MAGED2):c.968G>A (p.Arg323Gln)	MAGED2 (R323Q)	Single nucleotide variant (missense variant)	Bartter disease type 5	GUncertain significance
Select item 2687474	NM_177433.3(MAGED2):c.1271+4_1271+7del	MAGED2	Microsatellite (splice donor variant)	Bartter disease type 5	GPathogenic
Select item 2582619	NM_177433.3(MAGED2):c.990G>A (p.Lys330=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5	GUncertain significance
Select item 2575215	NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)	MAGED2 (Q88*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GPathogenic
Select item 2433602	NM_177433.3(MAGED2):c.1425C>G (p.Tyr475Ter)	MAGED2 (Y475*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GUncertain significance
Select item 2096189	NM_177433.3(MAGED2):c.457C>T (p.Pro153Ser)	MAGED2 (P153S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805201	NM_177433.3(MAGED2):c.1386+1G>A	MAGED2	Single nucleotide variant (splice donor variant)	Bartter disease type 5	GLikely pathogenic
Select item 1279142	NM_177433.3(MAGED2):c.624C>T (p.Ala208=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 1278258	NM_177433.3(MAGED2):c.981C>T (p.Ser327=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 1258035	NM_177433.3(MAGED2):c.396A>G (p.Thr132=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1244776	NM_177433.3(MAGED2):c.252A>G (p.Ser84=)	MAGED2	Single nucleotide variant (synonymous variant)	Bartter disease type 5 +1 more	GBenign
Select item 786394	NM_177433.3(MAGED2):c.816A>G (p.Pro272=)	MAGED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 226035	NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)	MAGED2 (K133*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GPathogenic
Select item 226034	NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)	MAGED2 (R446C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 226033	NM_177433.3(MAGED2):c.386_387del (p.Val129fs)	MAGED2 (V129fs)	Microsatellite (frameshift variant)	Bartter disease type 5	GPathogenic
Select item 226032	NM_177433.3(MAGED2):c.991-2A>G	MAGED2	Single nucleotide variant (splice acceptor variant)	Bartter disease type 5	GPathogenic
Select item 226031	NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)	MAGED2 (Y346*)	Single nucleotide variant (nonsense)	Bartter disease type 5	GPathogenic