TMED5[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 746730	NM_016040.5(TMED5):c.609A>G (p.Leu203=)	TMED5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 787206	NM_016040.5(TMED5):c.599T>C (p.Met200Thr)	TMED5 (M200T)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3178359	NM_016040.5(TMED5):c.589T>A (p.Phe197Ile)	TMED5 (F197I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2357899	NM_016040.5(TMED5):c.533G>C (p.Arg178Thr)	TMED5 (R178T)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 2404769	NM_016040.5(TMED5):c.470T>G (p.Leu157Arg)	TMED5 (L157R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326605	NM_016040.5(TMED5):c.386T>C (p.Met129Thr)	TMED5 (M129T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467266	NM_016040.5(TMED5):c.386T>A (p.Met129Lys)	TMED5 (M129K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286461	NM_016040.5(TMED5):c.180C>G (p.Ile60Met)	CCDC18, TMED5 (I60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic