Related gene-specific medical variations for Gene (Select 6418) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025809	NM_001122821.2(SET):c.65T>C (p.Leu22Pro)	DYNC2I2, SET (L22P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2435819	NM_003011.4(SET):c.787G>A (p.Asp263Asn)	SET (D252N +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 1711695	NM_003011.4(SET):c.73+379C>T	LOC130002719, SET	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695268	NM_003011.4(SET):c.8C>T (p.Ala3Val)	LOC130002718, SET (A3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690635	NM_003011.4(SET):c.73+342G>C	LOC130002719, SET (R4P)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1309020	NM_001122821.2(SET):c.10A>G (p.Lys4Glu)	DYNC2I2, SET (K4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031254	NM_003011.4(SET):c.73+351A>T	LOC130002719, SET (Q7L)	Single nucleotide variant (intron variant +1 more)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 987492	NM_003011.4(SET):c.236del (p.Pro79fs)	SET (P68fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986988	NM_003011.4(SET):c.615_619del (p.Glu206fs)	SET (E195fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 930935	NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT	SET	Insertion (intron variant +1 more)	Intellectual disability, autosomal dominant 58	GUncertain significance
Select item 774204	NM_001122821.2(SET):c.66G>T (p.Leu22=)	DYNC2I2, SET	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 100826	NM_003011.4(SET):c.280G>C (p.Ala94Pro)	SET (A107P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance