"PreventionGenetics, part of Exact Sciences"[submitter] AND "PHF3"[gen - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634524	NM_001370348.2(PHF3):c.151G>A (p.Asp51Asn)	PHF3 (D51N)	Single nucleotide variant (5 prime UTR variant +2 more)	PHF3-related disorder	GUncertain significance
Select item 3045235	NM_001370348.2(PHF3):c.244+7C>A	PHF3	Single nucleotide variant (intron variant)	PHF3-related disorder	GLikely benign
Select item 3037746	NM_001370348.2(PHF3):c.407-9_407-8del	PHF3	Deletion (intron variant)	PHF3-related disorder	GBenign
Select item 716135	NM_001370348.2(PHF3):c.454G>T (p.Ala152Ser)	PHF3 (A152S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3042219	NM_001370348.2(PHF3):c.498A>G (p.Val166=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GBenign
Select item 3041920	NM_001370348.2(PHF3):c.697G>A (p.Gly233Arg)	PHF3 (G145R +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GBenign
Select item 3035517	NM_001370348.2(PHF3):c.852A>G (p.Pro284=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2633475	NM_001370348.2(PHF3):c.962A>G (p.Asp321Gly)	PHF3 (D233G +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GUncertain significance
Select item 778244	NM_001370348.2(PHF3):c.1294G>A (p.Glu432Lys)	PHF3 (E432K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 786090	NM_001370348.2(PHF3):c.1506C>T (p.Thr502=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3035077	NM_001370348.2(PHF3):c.1584G>A (p.Val528=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 3058158	NM_001370348.2(PHF3):c.1803C>T (p.His601=)	PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2368084	NM_001370348.2(PHF3):c.1804G>A (p.Ala602Thr)	PHF3 (A514T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3053849	NM_001370348.2(PHF3):c.1927G>A (p.Val643Met)	LOC129996682, PHF3 (V555M +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related disorder	GBenign
Select item 3043326	NM_001370348.2(PHF3):c.2061A>G (p.Pro687=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 3050427	NM_001370348.2(PHF3):c.2163G>T (p.Gly721=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related disorder	GLikely benign
Select item 2631350	NM_001370348.2(PHF3):c.2414_2415inv (p.Leu805Gln)	PHF3 (L717Q +2 more)	Inversion (missense variant)	PHF3-related disorder	GUncertain significance
Select item 3052278	NM_001370348.2(PHF3):c.2415T>A (p.Leu805=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 3040949	NM_001370348.2(PHF3):c.2454T>C (p.Tyr818=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 3048131	NM_001370348.2(PHF3):c.2560G>A (p.Ala854Thr)	PHF3 (A123T +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 3043671	NM_001370348.2(PHF3):c.2681G>T (p.Gly894Val)	PHF3 (G163V +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 3034369	NM_001370348.2(PHF3):c.2862G>T (p.Lys954Asn)	PHF3 (K223N +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 3061569	NM_001370348.2(PHF3):c.2996A>G (p.Lys999Arg)	PHF3 (K268R +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 3052997	NM_001370348.2(PHF3):c.3140G>A (p.Arg1047Gln)	PHF3 (R1047Q +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GUncertain significance
Select item 711443	NM_001370348.2(PHF3):c.3232-6C>T	PHF3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3034923	NM_001370348.2(PHF3):c.3276A>C (p.Glu1092Asp)	PHF3 (E1004D +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 3046162	NM_001370348.2(PHF3):c.3712-7del	PHF3	Deletion (intron variant)	PHF3-related disorder	GLikely benign
Select item 2628715	NM_001370348.2(PHF3):c.4429A>G (p.Thr1477Ala)	PHF3 (T1389A +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GUncertain significance
Select item 3040925	NM_001370348.2(PHF3):c.4455G>C (p.Gln1485His)	PHF3 (Q1397H +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 3035300	NM_001370348.2(PHF3):c.4692A>G (p.Pro1564=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 3058330	NM_001370348.2(PHF3):c.4827G>C (p.Gln1609His)	PHF3 (Q1521H +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GLikely benign
Select item 3054957	NM_001370348.2(PHF3):c.4870A>T (p.Asn1624Tyr)	PHF3 (N1536Y +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GUncertain significance
Select item 3055594	NM_001370348.2(PHF3):c.5021G>A (p.Arg1674Gln)	PHF3 (R1586Q +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GBenign
Select item 2632731	NM_001370348.2(PHF3):c.5095dup (p.Glu1699fs)	PHF3 (E1611fs +2 more)	Duplication (frameshift variant)	PHF3-related disorder	GUncertain significance
Select item 790578	NM_001370348.2(PHF3):c.5375G>C (p.Ser1792Thr)	PHF3 (S1061T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2632616	NM_001370348.2(PHF3):c.5614C>T (p.Leu1872Phe)	PHF3 (L1141F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3041813	NM_001370348.2(PHF3):c.5745G>A (p.Arg1915=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GBenign
Select item 3034476	NM_001370348.2(PHF3):c.5772T>C (p.Tyr1924=)	PHF3	Single nucleotide variant (synonymous variant)	PHF3-related disorder	GLikely benign
Select item 3031910	NM_001370348.2(PHF3):c.5872_5873del (p.Asp1958fs)	PHF3 (D1227fs +2 more)	Microsatellite (frameshift variant)	PHF3-related disorder	GUncertain significance
Select item 2635173	NM_001370348.2(PHF3):c.6065G>C (p.Arg2022Thr)	PHF3 (R1291T +2 more)	Single nucleotide variant (missense variant)	PHF3-related disorder	GUncertain significance
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +4 more	GPathogenic/Likely pathogenic
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +4 more	GPathogenic/Likely pathogenic
Select item 2636212	NM_001142800.2(EYS):c.8906A>T (p.Asp2969Val)	EYS, PHF3 (D2969V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EYS-related disorder	GUncertain significance
Select item 1065672	NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	EYS, PHF3 (S2869* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic

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Items: 44