Related gene-specific medical variations for Gene (Select 84295) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361325	NM_001015877.2(PHF6):c.511A>G (p.Asn171Asp)	PHF6 (N171D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361107	NM_001015877.2(PHF6):c.298C>T (p.His100Tyr)	PHF6 (H100Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359662	NM_001015877.2(PHF6):c.470A>G (p.Lys157Arg)	PHF6 (K157R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920677	NM_001015877.2(PHF6):c.449A>T (p.Glu150Val)	PHF6 (E151V +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2441701	NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)	PHF6 (N316I)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2434685	NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)	PHF6 (I123M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2432598	NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)	PHF6 (V126fs)	Indel (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 1676448	NM_032458.3(PHF6):c.*1439C>G	PHF6	Single nucleotide variant	not provided	GUncertain significance
Select item 1324890	NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)	PHF6	Deletion (nonsense)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 1319370	NM_001015877.2(PHF6):c.85G>T (p.Gly29Ter)	PHF6 (G29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1174087	NM_001015877.2(PHF6):c.1019A>G (p.Glu340Gly)	PHF6 (E340G)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 932063	NM_001015877.2(PHF6):c.240+10T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 804232	NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)	PHF6 (G275R +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 135032	NM_001015877.2(PHF6):c.527C>T (p.Ser176Leu)	PHF6 (S176L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided