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

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 1309020	NM_001122821.2(SET):c.10A>G (p.Lys4Glu)	SET, DYNC2I2 (K4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372463	NM_001122821.2(SET):c.58C>A (p.Pro20Thr)	DYNC2I2, SET (P20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806633	NM_003011.4(SET):c.24_27del (p.Ser9fs)	SET (S9fs)	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 817338	NM_003011.4(SET):c.78_81del (p.Lys26fs)	SET (K17fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 521454	NM_003011.4(SET):c.130_133del (p.Arg44fs)	SET (R44fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 817064	NM_003011.4(SET):c.185_186del (p.Lys62fs)	SET (K53fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1691608	NM_003011.4(SET):c.263A>G (p.Asn88Ser)	SET (N101S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304282	NM_003011.4(SET):c.268C>T (p.Pro90Ser)	SET (P103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368868	NM_003011.4(SET):c.323C>G (p.Thr108Ser)	SET (T108S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373354	NM_003011.4(SET):c.394C>T (p.Pro132Ser)	SET (P121S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700321	NM_003011.4(SET):c.469G>A (p.Glu157Lys)	SET (E146K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365560	NM_003011.4(SET):c.496T>G (p.Leu166Val)	SET (L155V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663182	NM_003011.4(SET):c.550G>A (p.Glu184Lys)	SET (E173K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442487	NM_003011.4(SET):c.561G>C (p.Glu187Asp)	SET (E176D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206746	NM_003011.4(SET):c.664-4del	SET	Deletion (intron variant)	not provided	GLikely benign
Select item 3253464	NM_003011.4(SET):c.664G>T (p.Val222Phe)	SET (V211F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211562	NM_003011.4(SET):c.670G>A (p.Asp224Asn)	SET (D213N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2661918	NM_003011.4(SET):c.799dup (p.Glu267fs)	SET (E256fs +3 more)	Duplication (frameshift variant)	not provided	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

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Items: 22