"Ambry Genetics"[submitter] AND "CSN2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2216140	NM_001891.4(CSN2):c.674G>C (p.Ser225Thr)	CSN2 (S224T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620447	NM_001891.4(CSN2):c.661C>T (p.His221Tyr)	CSN2 (H206Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471353	NM_001891.4(CSN2):c.607C>A (p.Leu203Ile)	CSN2 (L203I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272950	NM_001891.4(CSN2):c.581A>G (p.Gln194Arg)	CSN2 (Q193R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078261	NM_001891.4(CSN2):c.538C>T (p.Pro180Ser)	CSN2 (P165S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269872	NM_001891.4(CSN2):c.505T>C (p.Trp169Arg)	CSN2 (W154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296972	NM_001891.4(CSN2):c.499C>T (p.Pro167Ser)	CSN2 (P167S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269874	NM_001891.4(CSN2):c.484G>A (p.Ala162Thr)	CSN2 (A147T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269875	NM_001891.4(CSN2):c.472C>T (p.Pro158Ser)	CSN2 (P143S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302300	NM_001891.4(CSN2):c.378T>A (p.Phe126Leu)	CSN2 (F111L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078260	NM_001891.4(CSN2):c.377T>C (p.Phe126Ser)	CSN2 (F125S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530156	NM_001891.4(CSN2):c.365C>T (p.Thr122Met)	CSN2 (T107M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247097	NM_001891.4(CSN2):c.365C>G (p.Thr122Arg)	CSN2 (T121R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223138	NM_001891.4(CSN2):c.277G>T (p.Val93Phe)	CSN2 (V92F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599254	NM_001891.4(CSN2):c.259C>A (p.Pro87Thr)	CSN2 (P72T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078259	NM_001891.4(CSN2):c.217C>A (p.Pro73Thr)	CSN2 (P58T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269873	NM_001891.4(CSN2):c.197A>C (p.Tyr66Ser)	CSN2 (Y66S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593324	NM_001891.4(CSN2):c.165C>G (p.Ile55Met)	CSN2 (I55M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078258	NM_001891.4(CSN2):c.164T>C (p.Ile55Thr)	CSN2 (I55T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271890	NM_001891.4(CSN2):c.152A>G (p.His51Arg)	CSN2 (H36R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484927	NM_001891.4(CSN2):c.115G>T (p.Val39Phe)	CSN2 (V38F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461588	NM_001891.4(CSN2):c.73A>C (p.Ser25Arg)	CSN2 (S25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22