"Ambry Genetics"[submitter] AND "PHF1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2221860	NM_024165.3(PHF1):c.25C>G (p.Arg9Gly)	PHF1 (R9G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267430	NM_024165.3(PHF1):c.91C>T (p.Leu31Phe)	PHF1 (L31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212056	NM_024165.3(PHF1):c.292G>A (p.Val98Met)	PHF1 (V98M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362555	NM_024165.3(PHF1):c.307C>T (p.Arg103Trp)	PHF1 (R103W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360905	NM_024165.3(PHF1):c.332G>A (p.Arg111His)	PHF1 (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401956	NM_024165.3(PHF1):c.613C>T (p.Arg205Trp)	PHF1 (R205W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600535	NM_024165.3(PHF1):c.715G>A (p.Gly239Arg)	PHF1 (G239R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461936	NM_024165.3(PHF1):c.842C>T (p.Thr281Ile)	PHF1 (T281I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300971	NM_024165.3(PHF1):c.1013C>T (p.Pro338Leu)	PHF1 (P338L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472164	NM_024165.3(PHF1):c.1087C>T (p.Arg363Cys)	PHF1 (R363C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212055	NM_024165.3(PHF1):c.1112C>T (p.Pro371Leu)	PHF1 (P371L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2398461	NM_024165.3(PHF1):c.1172C>T (p.Ser391Leu)	PHF1 (S391L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2508790	NM_024165.3(PHF1):c.1180C>T (p.Arg394Cys)	PHF1 (R394C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466035	NM_024165.3(PHF1):c.1192G>A (p.Glu398Lys)	PHF1 (R394Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402246	NM_024165.3(PHF1):c.1255C>A (p.Pro419Thr)	PHF1 (P419T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542859	NM_024165.3(PHF1):c.1476G>A (p.Ser492=)	PHF1 (R457Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2263696	NM_024165.3(PHF1):c.1555C>G (p.Arg519Gly)	PHF1 (R519G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance