ClinVar for MedGen (Select 78557) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3027441	NM_001015877.2(PHF6):c.729+2T>C	PHF6	Single nucleotide variant (splice donor variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
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 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 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 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 2427038	NC_000023.10:g.(?_133511648)_(133559360_?)del	PHF6	Deletion	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 2295489	NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)	PHF6 (I92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1777495	NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)	PHF6 (E351G)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1759870	NM_001015877.2(PHF6):c.762A>C (p.Thr254=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome +2 more	GLikely benign
Select item 1753829	NM_001015877.2(PHF6):c.648T>C (p.His216=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related condition +2 more	GBenign/Likely 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
Select item 1683726	NM_001015877.2(PHF6):c.-47+5G>A	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1596480	NM_001015877.2(PHF6):c.585+14A>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1531078	NM_001015877.2(PHF6):c.139-13del	PHF6	Deletion (intron variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 1440192	NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)	PHF6 (A41V)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1339806	NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)	PHF6 (T78M)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1325935	NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)	PHF6 (S83A)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 1324890	NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)	PHF6	Deletion (nonsense)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 1320220	NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter)	PHF6 (E139*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 1305156	NM_001015877.2(PHF6):c.342A>C (p.Gln114His)	PHF6 (Q114H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1266610	NM_001015877.2(PHF6):c.241-13C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign
Select item 1035315	NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala)	PHF6 (T289A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031493	NM_001015877.2(PHF6):c.969-6T>G	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1015376	NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile)	PHF6 (N147I +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 1010319	NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala)	PHF6 (G29A)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 983069	NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)	PHF6 (V268L +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 976155	NM_001015877.2(PHF6):c.585+1G>A	PHF6	Single nucleotide variant (splice donor variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 961345	NM_001015877.2(PHF6):c.310C>G (p.His104Asp)	PHF6 (H104D)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GUncertain significance
Select item 932063	NM_001015877.2(PHF6):c.240+10T>C	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 846281	NM_001015877.2(PHF6):c.829del (p.Arg277fs)	PHF6 (R277fs +1 more)	Deletion (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 804232	NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)	PHF6 (G275R +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 796280	NM_001015877.2(PHF6):c.714C>T (p.Ala238=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GBenign
Select item 784910	NM_001015877.2(PHF6):c.138+10C>T	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign/Likely benign
Select item 756547	NM_001015877.2(PHF6):c.528A>G (p.Ser176=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 728761	NM_001015877.2(PHF6):c.132G>A (p.Lys44=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome	GLikely benign
Select item 670935	NM_001015877.2(PHF6):c.139-47G>A	PHF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 623207	NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)	PHF6 (S22*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 594571	NM_001015877.2(PHF6):c.139-11_139-7del	PHF6	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 521446	NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)	PHF6 (R274* +1 more)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome +3 more	GPathogenic
Select item 506313	NM_001015877.2(PHF6):c.730-11T>G	PHF6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 488575	NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)	PHF6 (P11fs)	Duplication (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 488410	NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)	PHF6 (R225* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 438300	NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)	PHF6 (T255del +1 more)	Microsatellite (inframe_deletion)	Borjeson-Forssman-Lehmann syndrome	GLikely pathogenic
Select item 431889	NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser)	PHF6 (N59S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391122	NM_001015877.2(PHF6):c.399A>G (p.Lys133=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GBenign/Likely benign
Select item 375264	NM_001015877.2(PHF6):c.113del (p.Lys38fs)	PHF6 (K38fs)	Deletion (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GUncertain significance
Select item 242879	NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter)	PHF6 (C85*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 218375	NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)	PHF6 (A140T)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 211900	NM_001015877.2(PHF6):c.414C>T (p.Ser138=)	PHF6	Single nucleotide variant (synonymous variant)	Borjeson-Forssman-Lehmann syndrome +3 more	GConflicting classifications of pathogenicity
Select item 198600	NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)	PHF6 (I230V +1 more)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 139557	NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe)	PHF6 (C305F)	Single nucleotide variant (missense variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 135031	NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)	PHF6 (R163C +1 more)	Single nucleotide variant (missense variant)	PHF6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 129887	NM_001015877.2(PHF6):c.927C>T (p.Asp309=)	PHF6	Single nucleotide variant (synonymous variant)	PHF6-related condition +3 more	GConflicting classifications of pathogenicity
Select item 129886	NM_001015877.2(PHF6):c.729+4A>G	PHF6	Single nucleotide variant (intron variant)	PHF6-related condition +3 more	GConflicting classifications of pathogenicity
Select item 96221	NM_001015877.2(PHF6):c.374+8T>C	PHF6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 11072	NM_001015877.2(PHF6):c.27dup (p.Gly10fs)	PHF6 (G10fs)	Duplication (frameshift variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 11071	NM_001015877.2(PHF6):c.139-8A>G	PHF6	Single nucleotide variant (intron variant)	Borjeson-Forssman-Lehmann syndrome	GPathogenic
Select item 11070	NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter)	PHF6 (K8*)	Single nucleotide variant (nonsense)	Borjeson-Forssman-Lehmann syndrome	GPathogenic

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