"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PHF8"[gene - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025609	NM_015107.3(PHF8):c.3030C>T (p.Leu1010=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660638	NM_015107.3(PHF8):c.2940C>T (p.Thr980=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807727	NM_015107.3(PHF8):c.2815G>C (p.Glu939Gln)	PHF8 (E838Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660639	NM_015107.3(PHF8):c.2796C>G (p.Ser932=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660640	NM_015107.3(PHF8):c.2775A>G (p.Thr925=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211903	NM_015107.3(PHF8):c.2720G>A (p.Arg907His)	PHF8 (R907H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2660641	NM_015107.3(PHF8):c.2649+745A>G	PHF8 (K871R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660642	NM_015107.3(PHF8):c.2640G>A (p.Leu880=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660643	NM_015107.3(PHF8):c.2562G>A (p.Pro854=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013070	NM_015107.3(PHF8):c.2544C>A (p.Arg848=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743579	NM_015107.3(PHF8):c.2205G>A (p.Ser735=)	PHF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2660644	NM_015107.3(PHF8):c.2190C>T (p.Asn730=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025357	NM_015107.3(PHF8):c.1996-3C>T	PHF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067536	NM_015107.3(PHF8):c.1901T>G (p.Ile634Arg)	PHF8 (I533R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660645	NM_015107.3(PHF8):c.1763G>A (p.Arg588Gln)	PHF8 (R487Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444807	NM_015107.3(PHF8):c.1726G>A (p.Gly576Ser)	PHF8 (G576S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013071	NM_015107.3(PHF8):c.1694A>G (p.Asn565Ser)	PHF8 (N464S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660646	NM_015107.3(PHF8):c.1580C>T (p.Thr527Ile)	PHF8 (T527I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660647	NM_015107.3(PHF8):c.1389C>T (p.Ala463=)	PHF8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660648	NM_015107.3(PHF8):c.1327A>G (p.Ile443Val)	PHF8 (I443V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660649	NM_015107.3(PHF8):c.1323+543C>T	PHF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175826	NM_015107.3(PHF8):c.872T>C (p.Met291Thr)	PHF8 (M291T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2660650	NM_015107.3(PHF8):c.765C>T (p.Val255=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660651	NM_015107.3(PHF8):c.531A>G (p.Lys177=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030461	NM_015107.3(PHF8):c.197G>A (p.Arg66His)	PHF8 (R66H +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type +1 more	GUncertain significance
Select item 493526	NM_001184896.1(PHF8):c.-1A>C	LOC130068319, PHF8	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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Items: 27