"Ambry Genetics"[submitter] AND "PHF8"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1797977	NM_015107.3(PHF8):c.2947C>A (p.Arg983Ser)	PHF8 (R882S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1797821	NM_015107.3(PHF8):c.2931C>T (p.Val977=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2479263	NM_015107.3(PHF8):c.2902C>T (p.Arg968Cys)	PHF8 (R968C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1797356	NM_015107.3(PHF8):c.2896G>A (p.Ala966Thr)	PHF8 (A1002T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250959	NM_015107.3(PHF8):c.2882T>C (p.Phe961Ser)	PHF8 (F961S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228570	NM_015107.3(PHF8):c.2870G>A (p.Arg957His)	PHF8 (R856H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588564	NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe)	PHF8 (L949F +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type +1 more	GUncertain significance
Select item 445714	NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del)	PHF8 (S933del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 749827	NM_015107.3(PHF8):c.2761A>G (p.Thr921Ala)	PHF8 (T921A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 211903	NM_015107.3(PHF8):c.2720G>A (p.Arg907His)	PHF8 (R907H +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1794195	NM_015107.3(PHF8):c.2640G>C (p.Leu880=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2539719	NM_015107.3(PHF8):c.2620G>A (p.Ala874Thr)	PHF8 (A857T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589303	NM_015107.3(PHF8):c.2544C>T (p.Arg848=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3306165	NM_015107.3(PHF8):c.2495C>T (p.Pro832Leu)	PHF8 (P731L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588359	NM_015107.3(PHF8):c.2405A>C (p.Gln802Pro)	PHF8 (Q802P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212199	NM_015107.3(PHF8):c.2389G>A (p.Ala797Thr)	PHF8 (A780T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1790195	NM_015107.3(PHF8):c.2364C>T (p.Thr788=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2244775	NM_015107.3(PHF8):c.2318G>A (p.Arg773His)	PHF8 (R756H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393430	NM_015107.3(PHF8):c.2317C>T (p.Arg773Cys)	PHF8 (R756C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986145	NM_015107.3(PHF8):c.2299A>G (p.Asn767Asp)	PHF8 (N666D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212198	NM_015107.3(PHF8):c.2245G>A (p.Gly749Arg)	PHF8 (G785R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 521817	NM_015107.3(PHF8):c.2225dup (p.Ser742fs)	PHF8 (S778fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 743579	NM_015107.3(PHF8):c.2205G>A (p.Ser735=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2558103	NM_015107.3(PHF8):c.2204C>T (p.Ser735Leu)	PHF8 (S634L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211901	NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys)	PHF8 (E711K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588213	NM_015107.3(PHF8):c.2130-3C>T	PHF8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1782950	NM_015107.3(PHF8):c.1935G>A (p.Ala645=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1782913	NM_015107.3(PHF8):c.1932T>C (p.Arg644=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1781282	NM_015107.3(PHF8):c.1848T>C (p.Asp616=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780863	NM_015107.3(PHF8):c.1827C>T (p.Asp609=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2660645	NM_015107.3(PHF8):c.1763G>A (p.Arg588Gln)	PHF8 (R487Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3306166	NM_015107.3(PHF8):c.1762C>T (p.Arg588Trp)	PHF8 (R487W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779028	NM_015107.3(PHF8):c.1733C>T (p.Thr578Met)	PHF8 (T477M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589041	NM_015107.3(PHF8):c.1725C>T (p.Asn575=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589321	NM_015107.3(PHF8):c.1627-3C>T	PHF8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 985236	NM_015107.3(PHF8):c.1517G>A (p.Arg506Gln)	PHF8 (R506Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588034	NM_015107.3(PHF8):c.1422C>T (p.Ser474=)	PHF8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3212197	NM_015107.3(PHF8):c.1384C>G (p.Pro462Ala)	PHF8 (P462A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 840299	NM_015107.3(PHF8):c.1364T>C (p.Phe455Ser)	PHF8 (F455S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1770628	NM_015107.3(PHF8):c.1352C>T (p.Thr451Met)	PHF8 (T451M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589662	NM_015107.3(PHF8):c.1269A>G (p.Thr423=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2229721	NM_015107.3(PHF8):c.1234G>A (p.Ala412Thr)	PHF8 (A412T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1744916	NM_015107.3(PHF8):c.1191C>A (p.Gly397=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1732841	NM_015107.3(PHF8):c.1147C>A (p.Arg383=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1766699	NM_015107.3(PHF8):c.936C>T (p.Phe312=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589586	NM_015107.3(PHF8):c.912C>T (p.Ser304=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1175826	NM_015107.3(PHF8):c.872T>C (p.Met291Thr)	PHF8 (M291T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2271213	NM_015107.3(PHF8):c.842G>C (p.Cys281Ser)	PHF8 (C281S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543677	NM_015107.3(PHF8):c.817A>G (p.Asn273Asp)	PHF8 (N309D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1758976	NM_015107.3(PHF8):c.744T>C (p.Ile248=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588957	NM_015107.3(PHF8):c.635A>G (p.Lys212Arg)	PHF8 (K212R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747849	NM_015107.3(PHF8):c.612G>A (p.Val204=)	PHF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129888	NM_015107.3(PHF8):c.606C>T (p.Asn202=)	PHF8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1748018	NM_015107.3(PHF8):c.550A>C (p.Arg184=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 129890	NM_015107.3(PHF8):c.441T>G (p.Val147=)	PHF8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 588605	NM_015107.3(PHF8):c.336C>T (p.Thr112=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588101	NM_015107.3(PHF8):c.258G>A (p.Thr86=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 516469	NM_015107.3(PHF8):c.219T>A (p.Asp73Glu)	PHF8 (D73E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2537150	NM_015107.3(PHF8):c.132C>G (p.Asp44Glu)	PHF8 (D80E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59