"Invitae"[submitter] AND "SET"[gene] - ClinVar

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

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 741914	NM_001122821.2(SET):c.30G>A (p.Pro10=)	DYNC2I2, SET	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774204	NM_001122821.2(SET):c.66G>T (p.Leu22=)	DYNC2I2, SET	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711398	NM_003011.4(SET):c.131+8T>G	SET	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768327	NM_003011.4(SET):c.275-6G>A	SET	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725252	NM_003011.4(SET):c.468C>G (p.Thr156=)	SET	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724982	NM_003011.4(SET):c.606T>C (p.Asp202=)	SET	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752760	NM_003011.4(SET):c.651A>G (p.Leu217=)	SET	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860686	NM_003011.4(SET):c.663+5G>C	SET	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 830789	NC_000009.12:g.(?_128683896)_(128689655_?)del	SET	Deletion	not provided	GPathogenic