TMED2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2517771	NM_006815.4(TMED2):c.7A>T (p.Thr3Ser)	TMED2 (T3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476040	NM_006815.4(TMED2):c.203G>A (p.Gly68Glu)	TMED2 (G68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484232	NM_006815.4(TMED2):c.430G>A (p.Val144Ile)	TMED2 (V151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343134	NM_006815.4(TMED2):c.487G>A (p.Asp163Asn)	TMED2 (D170N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	MTRFR, DDX55 +37 more	Deletion	not provided	GUncertain significance
Select item 1340887	GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	BRI3BP, CCDC92 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 980994	GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 29