"Ambry Genetics"[submitter] AND "SETDB2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205069	NM_001160308.3(SETDB2):c.184A>T (p.Ile62Phe)	SETDB2-PHF11, SETDB2 (I50F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548727	NM_001160308.3(SETDB2):c.332C>T (p.Ser111Phe)	SETDB2, SETDB2-PHF11 (S123F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242626	NM_001160308.3(SETDB2):c.454C>A (p.Pro152Thr)	SETDB2-PHF11, SETDB2 (P164T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379960	NM_001160308.3(SETDB2):c.568G>A (p.Val190Met)	SETDB2-PHF11, SETDB2 (V190M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2519062	NM_001160308.3(SETDB2):c.608A>G (p.Asn203Ser)	SETDB2, SETDB2-PHF11 (N191S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484188	NM_001160308.3(SETDB2):c.694G>T (p.Val232Leu)	SETDB2, SETDB2-PHF11 (V244L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537201	NM_001160308.3(SETDB2):c.717A>T (p.Glu239Asp)	SETDB2, SETDB2-PHF11 (E251D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213201	NM_001160308.3(SETDB2):c.970A>G (p.Arg324Gly)	SETDB2, SETDB2-PHF11 (R324G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274280	NM_001160308.3(SETDB2):c.1007T>C (p.Leu336Ser)	SETDB2, SETDB2-PHF11 (L324S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270231	NM_001160308.3(SETDB2):c.1359T>G (p.Ser453Arg)	SETDB2, SETDB2-PHF11 (S465R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311273	NM_001160308.3(SETDB2):c.1501T>A (p.Ser501Thr)	SETDB2-PHF11, SETDB2 (S489T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321240	NM_001160308.3(SETDB2):c.1502C>G (p.Ser501Cys)	SETDB2-PHF11, SETDB2 (S501C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2511084	NM_001160308.3(SETDB2):c.1564A>G (p.Lys522Glu)	SETDB2, SETDB2-PHF11 (K522E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2603051	NM_001160308.3(SETDB2):c.1828A>G (p.Thr610Ala)	SETDB2, SETDB2-PHF11 (T598A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2205070	NM_001160308.3(SETDB2):c.1975A>G (p.Asn659Asp)	SETDB2, SETDB2-PHF11 (N647D +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance