C4540131[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439960	NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)	CHD1 (H1585Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439963	NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)	CHD1 (H1549P +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439961	NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)	CHD1 (N1518H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439953	NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)	CHD1 (S1314I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439964	NM_001270.4(CHD1):c.2964+3A>G	CHD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439949	NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)	CHD1 (L869P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439952	NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)	CHD1 (Q812E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439955	NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)	CHD1 (A779V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439950	NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)	CHD1 (R393C)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2688768	NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)	CHD1 (Q389K)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439957	NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)	CHD1 (R361I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439958	NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)	CHD1 (W322*)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439959	NM_001270.4(CHD1):c.788T>C (p.Val263Ala)	CHD1 (V263A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439951	NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)	CHD1 (K203Q)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439962	NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)	CHD1 (G153E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439956	NM_001270.4(CHD1):c.362G>T (p.Gly121Val)	CHD1 (G121V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance