ClinVar for Gene (Select 23133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363308	NM_015107.3(PHF8):c.1854G>C (p.Glu618Asp)	PHF8 (E517D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361608	NM_015107.3(PHF8):c.1021G>A (p.Glu341Lys)	PHF8 (E341K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358940	NM_015107.3(PHF8):c.1731-1G>C	PHF8	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 3341884	NM_015107.3(PHF8):c.2649+747C>G	PHF8 (L872V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340615	NM_015107.3(PHF8):c.2614G>A (p.Gly872Ser)	PHF8 (G771S +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 3245395	NC_000023.10:g.(?_53222149)_(54521865_?)dup	FAM120C, FGD1 +11 more	Duplication	Intellectual disability, X-linked 1	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3238855	NM_015107.3(PHF8):c.3062A>G (p.Lys1021Arg)	PHF8 (K1021R +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type	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 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 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 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 3065563	NM_015107.3(PHF8):c.2656C>T (p.Gln886Ter)	PHF8 (Q785* +2 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Siderius type	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3055221	NM_015107.3(PHF8):c.2214G>A (p.Pro738=)	PHF8	Single nucleotide variant (synonymous variant)	PHF8-related disorder	GLikely benign
Select item 3046655	NM_015107.3(PHF8):c.-52T>C	PHF8	Single nucleotide variant (synonymous variant +1 more)	PHF8-related disorder	GLikely benign
Select item 3035919	NM_015107.3(PHF8):c.1041T>C (p.Tyr347=)	PHF8	Single nucleotide variant (synonymous variant)	PHF8-related disorder	GLikely benign
Select item 3025609	NM_015107.3(PHF8):c.3030C>T (p.Leu1010=)	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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685088	GRCh37/hg19 Xp11.22(chrX:53954419-54291347)x0	FAM120C, PHF8 +1 more	Copy number loss	not provided	GPathogenic
Select item 2684987	GRCh37/hg19 Xp11.22(chrX:53898297-54448265)x3	FAM120C, PHF8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684985	GRCh37/hg19 Xp11.22(chrX:53874311-54045026)x3	PHF8	Copy number gain	not provided	GUncertain significance
Select item 2672313	GRCh38/hg38 Xp11.22(chrX:54038034-54049437)x0	LOC125467754, LOC130068317 +3 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2671606	Single allele	FAM120C, FGD1 +4 more	Duplication	not provided	GUncertain significance
Select item 2663332	NM_015107.3(PHF8):c.2810C>T (p.Pro937Leu)	PHF8 (P836L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663244	NM_015107.3(PHF8):c.2305C>T (p.Pro769Ser)	PHF8 (P668S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662466	NM_015107.3(PHF8):c.2332C>T (p.Arg778Trp)	PHF8 (R677W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660651	NM_015107.3(PHF8):c.531A>G (p.Lys177=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660650	NM_015107.3(PHF8):c.765C>T (p.Val255=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660649	NM_015107.3(PHF8):c.1323+543C>T	PHF8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660648	NM_015107.3(PHF8):c.1327A>G (p.Ile443Val)	PHF8 (I443V +1 more)	Single nucleotide variant (intron 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 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 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 2660644	NM_015107.3(PHF8):c.2190C>T (p.Asn730=)	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 2660642	NM_015107.3(PHF8):c.2640G>A (p.Leu880=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2660640	NM_015107.3(PHF8):c.2775A>G (p.Thr925=)	PHF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660639	NM_015107.3(PHF8):c.2796C>G (p.Ser932=)	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 2630649	NM_015107.3(PHF8):c.2140G>T (p.Ala714Ser)	PHF8 (A613S +3 more)	Single nucleotide variant (missense variant)	PHF8-related disorder	GUncertain significance
Select item 2630637	NM_015107.3(PHF8):c.2561C>T (p.Pro854Leu)	PHF8 (P753L +3 more)	Single nucleotide variant (missense variant)	PHF8-related disorder	GUncertain significance
Select item 2630075	NM_015107.3(PHF8):c.783+2del	PHF8	Deletion (splice donor variant)	PHF8-related disorder	GLikely pathogenic
Select item 2582170	NM_015107.3(PHF8):c.2476C>T (p.Pro826Ser)	PHF8 (P725S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580777	NM_015107.3(PHF8):c.-93+1G>C	PHF8	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2578125	NM_015107.3(PHF8):c.2909C>T (p.Thr970Ile)	PHF8 (T1006I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577656	NM_015107.3(PHF8):c.2945G>A (p.Arg982Gln)	PHF8 (R1018Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576710	NM_015107.3(PHF8):c.1293A>C (p.Lys431Asn)	PHF8 (K431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572858	NM_015107.3(PHF8):c.1360A>C (p.Ile454Leu)	PHF8 (I454L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572004	NM_015107.3(PHF8):c.738dup (p.His247fs)	PHF8 (H247fs +1 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability Siderius type	GPathogenic
Select item 2571894	NM_015107.3(PHF8):c.2980G>A (p.Gly994Arg)	PHF8 (G1030R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2537150	NM_015107.3(PHF8):c.132C>G (p.Asp44Glu)	PHF8 (D80E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506809	NM_015107.3(PHF8):c.2522C>T (p.Ala841Val)	PHF8 (A740V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504702	NM_015107.3(PHF8):c.2156A>C (p.Gln719Pro)	PHF8 (Q618P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503234	NM_015107.3(PHF8):c.1672C>A (p.Pro558Thr)	PHF8 (P457T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499813	NM_015107.3(PHF8):c.1550C>T (p.Ala517Val)	PHF8 (A517V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2479263	NM_015107.3(PHF8):c.2902C>T (p.Arg968Cys)	PHF8 (R968C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445972	NM_015107.3(PHF8):c.1879A>G (p.Lys627Glu)	PHF8 (K526E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445703	NM_015107.3(PHF8):c.1987G>A (p.Asp663Asn)	PHF8 (D562N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444538	NM_015107.3(PHF8):c.2291C>A (p.Thr764Lys)	PHF8 (T663K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442716	NM_015107.3(PHF8):c.2308G>C (p.Ala770Pro)	PHF8 (A669P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441947	NM_015107.3(PHF8):c.1233+6T>C	PHF8	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 2434687	NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)	PHF8 (E610A +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 2434686	NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)	PHF8 (G1023S +2 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 2431835	NM_015107.3(PHF8):c.1995+1G>A	PHF8	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Siderius type	GLikely pathogenic
Select item 2430482	NM_015107.3(PHF8):c.268G>A (p.Glu90Lys)	PHF8 (E126K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
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 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 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 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 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 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 2136074	NM_015107.3(PHF8):c.2837C>T (p.Ser946Leu)	PHF8 (S845L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129872	NM_015107.3(PHF8):c.2246G>C (p.Gly749Ala)	PHF8 (G785A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020072	NM_015107.3(PHF8):c.1384C>T (p.Pro462Ser)	PHF8 (P462S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878824	NM_015107.3(PHF8):c.2257C>T (p.Arg753Ter)	PHF8 (R652* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1808595	GRCh37/hg19 Xp11.22(chrX:53922255-54064919)x3	PHF8	Copy number gain	not provided	GUncertain significance
Select item 1808241	GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807881	GRCh37/hg19 Xp11.22(chrX:53911258-54049774)x3	PHF8	Copy number gain	not provided	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807611	GRCh37/hg19 Xp11.22(chrX:53714934-54025578)x4	PHF8	Copy number gain	not provided	GUncertain significance
Select item 1805762	NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)	PHF8 (D526G +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 1804980	NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)	PHF8 (R672P +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
Select item 1804418	NM_015107.3(PHF8):c.2993G>A (p.Arg998His)	PHF8 (R1034H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804307	NM_015107.3(PHF8):c.2540C>T (p.Ala847Val)	PHF8 (A746V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802561	NM_015107.3(PHF8):c.865A>T (p.Asn289Tyr)	PHF8 (N289Y +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Siderius type	GUncertain significance
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 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 1794195	NM_015107.3(PHF8):c.2640G>C (p.Leu880=)	PHF8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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