"Ambry Genetics"[submitter] AND "PHF23"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2272035	NM_024297.3(PHF23):c.1170G>C (p.Glu390Asp)	PHF23 (E323D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243746	NM_024297.3(PHF23):c.1118C>A (p.Thr373Asn)	PHF23 (T306N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262218	NM_024297.3(PHF23):c.850C>T (p.Pro284Ser)	PHF23 (P217S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212155	NM_024297.3(PHF23):c.835C>T (p.Pro279Ser)	PHF23 (P275S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623934	NM_024297.3(PHF23):c.814G>C (p.Val272Leu)	PHF23 (V272L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283868	NM_024297.3(PHF23):c.787G>A (p.Ala263Thr)	PHF23 (A259T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298240	NM_024297.3(PHF23):c.738C>G (p.Asp246Glu)	PHF23 (D179E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595677	NM_024297.3(PHF23):c.721C>T (p.Pro241Ser)	PHF23 (P174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553926	NM_024297.3(PHF23):c.688G>T (p.Asp230Tyr)	PHF23 (D226Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520073	NM_024297.3(PHF23):c.683G>A (p.Arg228Gln)	PHF23 (R161Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212154	NM_024297.3(PHF23):c.682C>T (p.Arg228Trp)	PHF23 (R224W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212153	NM_024297.3(PHF23):c.586T>A (p.Phe196Ile)	PHF23 (F192I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321543	NM_024297.3(PHF23):c.583G>A (p.Gly195Ser)	PHF23 (G191S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315984	NM_024297.3(PHF23):c.458C>T (p.Ser153Phe)	PHF23 (S149F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290745	NM_024297.3(PHF23):c.377C>A (p.Thr126Asn)	PHF23 (T122N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460768	NM_024297.3(PHF23):c.364C>T (p.Pro122Ser)	PHF23 (P122S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212152	NM_024297.3(PHF23):c.353G>A (p.Arg118His)	PHF23 (R114H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485788	NM_024297.3(PHF23):c.352C>T (p.Arg118Cys)	PHF23 (R114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382010	NM_024297.3(PHF23):c.250C>T (p.Leu84Phe)	PHF23 (L80F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212151	NM_024297.3(PHF23):c.191C>A (p.Ser64Tyr)	PHF23 (S60Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212150	NM_024297.3(PHF23):c.190T>A (p.Ser64Thr)	PHF23 (S60T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462616	NM_024297.3(PHF23):c.92T>C (p.Ile31Thr)	PHF23 (I27T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359104	NM_024297.3(PHF23):c.59A>G (p.Glu20Gly)	PHF23 (E16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23