ClinVar for Gene (Select 84295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337450	NM_001015877.2(PHF6):c.464C>G (p.Ser155Ter)	PHF6 (S155* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3245602	NC_000023.10:g.(?_132670152)_(133634107_?)del	CCDC160, GPC3 +4 more	Deletion	Wilms tumor 1	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242558	NM_001015877.2(PHF6):c.417A>T (p.Glu139Asp)	PHF6 (E139D)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 3212192	NM_001015877.2(PHF6):c.904C>T (p.His302Tyr)	PHF6 (H302Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3075727	NM_001015877.2(PHF6):c.139-2A>G	PHF6	Single nucleotide variant (splice acceptor variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 3062520	GRCh37/hg19 Xq26.2-26.3(chrX:133425092-133669804)	HPRT1, PHF6	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3054569	NM_001015877.2(PHF6):c.469A>G (p.Lys157Glu)	PHF6 (K157E +1 more)	Single nucleotide variant (missense variant)	PHF6-related disorder	GUncertain significance
Select item 3049246	NM_001015877.2(PHF6):c.834+109T>C	PHF6	Single nucleotide variant (3 prime UTR variant +1 more)	PHF6-related disorder	GLikely benign
Select item 3047596	NM_001015877.2(PHF6):c.888C>G (p.Ala296=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related disorder	GLikely benign
Select item 3045519	NM_001015877.2(PHF6):c.834+28A>G	PHF6 (T289A)	Single nucleotide variant (missense variant +1 more)	PHF6-related disorder	GLikely benign
Select item 3044070	NM_001015877.2(PHF6):c.39A>G (p.Arg13=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related disorder	GLikely benign
Select item 3033855	NM_001015877.2(PHF6):c.24A>G (p.Lys8=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related disorder	GLikely benign
Select item 3031461	NM_001015877.2(PHF6):c.9C>T (p.Ser3=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related disorder	GLikely benign
Select item 3030457	NM_001015877.2(PHF6):c.48A>G (p.Lys16=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related disorder	GLikely benign
Select item 3027441	NM_001015877.2(PHF6):c.729+2T>C	PHF6	Single nucleotide variant (splice donor variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 3027008	NM_001015877.2(PHF6):c.128A>C (p.His43Pro)	PHF6 (H43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026999	NM_001015877.2(PHF6):c.114G>T (p.Lys38Asn)	PHF6 (K38N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026841	NM_001015877.2(PHF6):c.765A>T (p.Thr255=)	PHF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TAF9B, ARMCX2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3018515	NM_001015877.2(PHF6):c.585+14dup	PHF6	Duplication (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 3011946	NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)	PHF6 (M125K)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 3008860	NM_001015877.2(PHF6):c.241-7G>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2920677	NM_001015877.2(PHF6):c.449A>T (p.Glu150Val)	PHF6 (E151V +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2915853	NM_001015877.2(PHF6):c.537C>G (p.Thr179=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 2902140	NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)	PHF6 (R129*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2900325	NM_001015877.2(PHF6):c.419-16G>A	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2897742	NM_001015877.2(PHF6):c.139-15A>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2873510	NM_001015877.2(PHF6):c.730-16C>A	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2864097	NM_001015877.2(PHF6):c.324A>G (p.Ala108=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2849204	NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)	PHF6 (D339N)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2848186	NM_001015877.2(PHF6):c.234G>A (p.Thr78=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2837491	NM_001015877.2(PHF6):c.375-4del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2837191	NM_001015877.2(PHF6):c.374+17T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2833295	NM_001015877.2(PHF6):c.766_768del (p.Ser256del)	PHF6 (S256del +1 more)	Deletion (inframe_deletion)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2830599	NM_001015877.2(PHF6):c.294A>C (p.Thr98=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2808121	NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)	PHF6 (T208I +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2801016	NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)	PHF6 (M125I)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2769148	NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)	PHF6 (R116*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2722367	NM_001015877.2(PHF6):c.870T>C (p.Ile290=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2719600	NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)	PHF6 (R278G +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2702990	NM_001015877.2(PHF6):c.241-17T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 2694340	NM_001015877.2(PHF6):c.374+22_374+26del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661475	NM_001015877.2(PHF6):c.834+87A>G	PHF6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2661474	NM_001015877.2(PHF6):c.750C>A (p.Val250=)	PHF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661473	NM_001015877.2(PHF6):c.392A>T (p.His131Leu)	PHF6 (H131L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2637144	NM_001015877.2(PHF6):c.761C>T (p.Thr254Ile)	PHF6 (T254I +1 more)	Single nucleotide variant (missense variant)	PHF6-related disorder	GUncertain significance
Select item 2635164	NM_001015877.2(PHF6):c.848G>A (p.Cys283Tyr)	PHF6 (C283Y)	Single nucleotide variant (missense variant)	PHF6-related disorder	GUncertain significance
Select item 2579393	NM_001015877.2(PHF6):c.767C>T (p.Ser256Leu)	PHF6 (S256L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540651	NM_001015877.2(PHF6):c.1004G>T (p.Arg335Ile)	PHF6 (R335I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2502441	NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)	PHF6 (G248V +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2502440	NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)	PHF6 (S49L)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 2502247	NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys)	PHF6 (R166K +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2474433	NM_001015877.2(PHF6):c.241-5_255del	PHF6	Deletion (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2441701	NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)	PHF6 (N316I)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2434685	NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)	PHF6 (I123M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2432598	NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)	PHF6 (V126fs)	Indel (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 2428972	NM_001015877.2(PHF6):c.156G>A (p.Leu52=)	PHF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2427038	NC_000023.10:g.(?_133511648)_(133559360_?)del	PHF6	Deletion	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2422566	NC_000023.10:g.(?_132670152)_(133634107_?)dup	CCDC160, GPC3 +4 more	Duplication	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency +1 more	GUncertain significance
Select item 2397813	NM_001015877.2(PHF6):c.1058A>G (p.Asp353Gly)	PHF6 (D353G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396348	NM_001015877.2(PHF6):c.834+53_834+58del	PHF6	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2302215	NM_001015877.2(PHF6):c.965A>C (p.Tyr322Ser)	PHF6 (Y322S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2295489	NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)	PHF6 (I92V)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign/Likely benign
Select item 2195968	NM_001015877.2(PHF6):c.586-14T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2189768	NM_001015877.2(PHF6):c.407A>G (p.His136Arg)	PHF6 (H136R)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2181392	NM_001015877.2(PHF6):c.418+17C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2166239	NM_001015877.2(PHF6):c.586-18T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 2165072	NM_001015877.2(PHF6):c.804A>G (p.Val268=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2148665	NM_001015877.2(PHF6):c.419-16G>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 2111214	NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)	PHF6 (E338del)	Microsatellite (inframe_deletion)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 2083828	NM_001015877.2(PHF6):c.374+16_374+20del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 2070527	NM_001015877.2(PHF6):c.84T>C (p.Cys28=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1968303	NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)	PHF6 (Q30R)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1965117	NM_001015877.2(PHF6):c.241-18T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1939400	NM_001015877.2(PHF6):c.138+11C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1939049	NM_001015877.2(PHF6):c.835-16C>A	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1931037	NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)	PHF6 (E341del)	Deletion (inframe_deletion)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1925092	NM_001015877.2(PHF6):c.1017T>C (p.Asp339=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1807128	NM_001015877.2(PHF6):c.1045A>G (p.Lys349Glu)	PHF6 (K349E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806493	NM_001015877.2(PHF6):c.77A>T (p.Lys26Met)	PHF6 (K26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1788615	NM_001015877.2(PHF6):c.1089T>C (p.Asn363=)	PHF6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1777495	NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)	PHF6 (E351G)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 1776073	NM_001015877.2(PHF6):c.159A>G (p.Val53=)	PHF6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1759870	NM_001015877.2(PHF6):c.762A>C (p.Thr254=)	PHF6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1757918	NM_001015877.2(PHF6):c.123G>A (p.Ala41=)	PHF6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1753829	NM_001015877.2(PHF6):c.648T>C (p.His216=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome +2 more	GBenign/Likely benign
Select item 1746426	NM_001015877.2(PHF6):c.525G>C (p.Leu175=)	PHF6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1718458	NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)	PHF6 (V53L)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1710152	NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)	PHF6 (C297F)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 1709026	NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr)	PHF6 (C128Y)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance

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