"PreventionGenetics, part of Exact Sciences"[submitter] AND "PHF2"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044205	NM_005392.4(PHF2):c.-18GCGGC[4]	PHF2	Microsatellite (5 prime UTR variant)	PHF2-related disorder	GLikely benign
Select item 3038246	NM_005392.4(PHF2):c.342G>A (p.Thr114=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 1262733	NM_005392.4(PHF2):c.372C>T (p.Thr124=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3041334	NM_005392.4(PHF2):c.399C>T (p.Asp133=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 791301	NM_005392.4(PHF2):c.789+10G>A	PHF2	Single nucleotide variant (intron variant)	PHF2-related disorder +1 more	GBenign/Likely benign
Select item 3041221	NM_005392.4(PHF2):c.819G>A (p.Pro273=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 3042745	NM_005392.4(PHF2):c.825G>A (p.Ser275=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 3040351	NM_005392.4(PHF2):c.1439C>T (p.Pro480Leu)	PHF2 (P480L)	Single nucleotide variant (missense variant)	PHF2-related disorder	GLikely benign
Select item 2633260	NM_005392.4(PHF2):c.1579G>A (p.Gly527Ser)	PHF2 (G527S)	Single nucleotide variant (missense variant)	PHF2-related disorder	GUncertain significance
Select item 3041892	NM_005392.4(PHF2):c.1644C>T (p.Leu548=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GBenign
Select item 3057561	NM_005392.4(PHF2):c.1887A>G (p.Gly629=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 3049578	NM_005392.4(PHF2):c.2174C>T (p.Ser725Leu)	PHF2 (S725L)	Single nucleotide variant (missense variant)	PHF2-related disorder	GLikely benign
Select item 776435	NM_005392.4(PHF2):c.2214G>A (p.Ser738=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3041371	NM_005392.4(PHF2):c.2519G>A (p.Ser840Asn)	PHF2 (S840N)	Single nucleotide variant (missense variant)	PHF2-related disorder	GBenign
Select item 3050762	NM_005392.4(PHF2):c.2595C>T (p.His865=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign
Select item 722562	NM_005392.4(PHF2):c.2964G>T (p.Pro988=)	PHF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2631238	NM_005392.4(PHF2):c.3059G>C (p.Ser1020Thr)	PHF2 (S1020T)	Single nucleotide variant (missense variant)	PHF2-related disorder	GUncertain significance
Select item 3050962	NM_005392.4(PHF2):c.3231C>T (p.Thr1077=)	PHF2	Single nucleotide variant (synonymous variant)	PHF2-related disorder	GLikely benign