"GeneDx"[submitter] AND "MED27"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 1064750	NM_004269.4(MED27):c.871G>A (p.Gly291Ser)	MED27 (G291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064749	NM_004269.4(MED27):c.839C>T (p.Pro280Leu)	MED27 (P280L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064752	NM_004269.4(MED27):c.565_566del (p.Met189fs)	MED27 (M189fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1804300	NM_004269.4(MED27):c.527T>A (p.Met176Lys)	MED27 (M176K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804299	NM_004269.4(MED27):c.523G>A (p.Glu175Lys)	MED27 (E175K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375996	NM_004269.4(MED27):c.483T>A (p.Tyr161Ter)	MED27 (Y161*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3378321	NM_004269.4(MED27):c.451C>T (p.Gln151Ter)	MED27 (Q151*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2662131	NM_004269.4(MED27):c.209del (p.Leu70fs)	MED27 (L70fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 253764	GRCh37/hg19 9q34.13(chr9:134353309-134839944)x3	POMT1, RAPGEF1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic