"GeneDx"[submitter] AND "PHEX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368154	NM_000444.6(PHEX):c.-108A>G	PHEX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 368155	NM_000444.6(PHEX):c.-90A>G	PHEX	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 368156	NM_000444.6(PHEX):c.-33C>T	PHEX	Single nucleotide variant (5 prime UTR variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign
Select item 225437	NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)	PHEX (E4Q)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GConflicting classifications of pathogenicity
Select item 964836	NM_000444.6(PHEX):c.27_28insA (p.Glu10fs)	PHEX (E10fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 379502	NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)	PHEX (R20*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1331209	NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe)	PHEX (A22F)	Indel (missense variant)	not provided	GUncertain significance
Select item 430012	NM_000444.6(PHEX):c.118+1G>T	PHEX	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 368159	NM_000444.6(PHEX):c.118+7G>T	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GConflicting classifications of pathogenicity
Select item 1259618	NM_000444.6(PHEX):c.118+286del	PHEX	Deletion (intron variant)	not provided	GBenign
Select item 1261679	NM_000444.6(PHEX):c.118+317T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265604	NM_000444.6(PHEX):c.134T>A (p.Leu45Ter)	PHEX (L45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 420126	NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)	PHEX (Q51*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 418922	NM_000444.6(PHEX):c.152_162del (p.Gln51fs)	PHEX (Q51fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280415	NM_000444.6(PHEX):c.154G>T (p.Glu52Ter)	PHEX (E52*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 379615	NM_000444.6(PHEX):c.185C>T (p.Ala62Val)	PHEX (A62V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1212727	NM_000444.6(PHEX):c.187+223G>A	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237619	NM_000444.6(PHEX):c.188-291T>G	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272258	NM_000444.6(PHEX):c.188-47C>T	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265498	NM_000444.6(PHEX):c.221_222del (p.Val74fs)	PHEX (V74fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 432000	NM_000444.6(PHEX):c.251C>A (p.Ala84Asp)	PHEX (A84D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787516	NM_000444.6(PHEX):c.288A>G (p.Glu96=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +2 more	GBenign/Likely benign
Select item 426473	NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter)	PHEX (Y104*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 422708	NM_000444.6(PHEX):c.332_334del (p.Val111del)	PHEX (V111del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 36678	NM_000444.6(PHEX):c.349+1G>C	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 1193341	NM_000444.6(PHEX):c.349+170A>G	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 431828	NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)	PHEX (Q133*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 792809	NM_000444.6(PHEX):c.399G>A (p.Gln133=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 419416	NM_000444.6(PHEX):c.419C>G (p.Ser140Ter)	PHEX (S140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 424579	NM_000444.6(PHEX):c.425G>C (p.Cys142Ser)	PHEX (C142S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 372450	NM_000444.6(PHEX):c.426C>A (p.Cys142Ter)	PHEX (C142*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 449698	NM_000444.6(PHEX):c.436+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 372451	NM_000444.6(PHEX):c.436+1G>C	PHEX	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 378358	NM_000444.6(PHEX):c.436+4A>G	PHEX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 389603	NM_000444.6(PHEX):c.436+19T>G	PHEX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1195585	NM_000444.6(PHEX):c.436+230G>C	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296694	NM_000444.6(PHEX):c.437-208A>G	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280906	NM_000444.6(PHEX):c.448A>T (p.Lys150Ter)	PHEX (K150*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 368161	NM_000444.6(PHEX):c.489A>G (p.Ser163=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 423451	NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)	PHEX (W167R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 372452	NM_000444.6(PHEX):c.500G>A (p.Trp167Ter)	PHEX (W167*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 372453	NM_000444.6(PHEX):c.503C>T (p.Pro168Leu)	PHEX (P168L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 423452	NM_000444.6(PHEX):c.505G>C (p.Val169Leu)	PHEX (V169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387440	NM_000444.6(PHEX):c.505G>A (p.Val169Met)	PHEX (V169M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 280486	NM_000444.6(PHEX):c.508_529del (p.Leu170fs)	PHEX (L170fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 265500	NM_000444.6(PHEX):c.538del (p.Trp180fs)	PHEX (W180fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 368162	NM_000444.6(PHEX):c.537T>A (p.Val179=)	PHEX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 381680	NM_000444.6(PHEX):c.565C>T (p.Gln189Ter)	PHEX (Q189*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 516930	NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)	PHEX (N200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 427089	NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)	PHEX (I204N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 379283	NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)	PHEX (L206W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 280502	NM_000444.6(PHEX):c.617T>A (p.Leu206Ter)	PHEX (L206*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 423220	NM_000444.6(PHEX):c.663+1_663+45del	PHEX	Deletion (splice donor variant)	not provided	GPathogenic
Select item 449505	NM_000444.6(PHEX):c.663+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 373319	NM_000444.6(PHEX):c.663+2T>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1258942	NM_000444.6(PHEX):c.664-124G>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430563	NM_000444.6(PHEX):c.664-2A>C	PHEX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 280300	NM_000444.6(PHEX):c.664-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 420127	NM_000444.6(PHEX):c.670C>T (p.Gln224Ter)	PHEX (Q224*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 419563	NM_000444.6(PHEX):c.682_683del (p.Ser228fs)	PHEX (S228fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 430170	NM_000444.6(PHEX):c.682dup (p.Ser228fs)	PHEX (S228fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1239701	NM_000444.6(PHEX):c.733-189G>A	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280260	NM_000444.6(PHEX):c.733-2A>T	PHEX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 279869	NM_000444.6(PHEX):c.733-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 423381	NM_000444.6(PHEX):c.758TGG[1] (p.Val254del)	PHEX (V254del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 280345	NM_000444.6(PHEX):c.779dup (p.Leu260fs)	PHEX (L260fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 817001	NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer)	PHEX	Deletion (nonsense)	not provided	GPathogenic
Select item 280487	NM_000444.6(PHEX):c.847_849+2del	PHEX	Deletion (splice donor variant)	not provided	GPathogenic
Select item 381681	NM_000444.6(PHEX):c.849+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1287659	NM_000444.6(PHEX):c.849+128G>A	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270957	NM_000444.6(PHEX):c.849+1049T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216846	NM_000444.6(PHEX):c.850-169T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418405	NM_000444.6(PHEX):c.850-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GConflicting classifications of pathogenicity
Select item 265501	NM_000444.6(PHEX):c.850del (p.Glu283_Ile284insTer)	PHEX	Deletion (nonsense)	not provided	GPathogenic
Select item 372454	NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	PHEX (R291*)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 372455	NM_000444.6(PHEX):c.883del (p.Ala295fs)	PHEX (A295fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 424357	NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)	PHEX (L305R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1224212	NM_000444.6(PHEX):c.933+41A>G	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235775	NM_000444.6(PHEX):c.933+286G>A	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278456	NM_000444.6(PHEX):c.934-217A>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280696	NM_000444.6(PHEX):c.941G>A (p.Trp314Ter)	PHEX (W314*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2737112	NM_000444.6(PHEX):c.947G>T (p.Gly316Val)	PHEX (G316V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432692	NM_000444.6(PHEX):c.961G>T (p.Val321Phe)	PHEX (V321F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420128	NM_000444.6(PHEX):c.985dup (p.His329fs)	PHEX (H329fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 449761	NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	PHEX (Y346C)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 372456	NM_000444.6(PHEX):c.1046dup (p.Asp349fs)	PHEX (D349fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 59240	GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0	PHEX	Copy number loss	See cases	GPathogenic
Select item 265502	NM_000444.6(PHEX):c.1079+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1258988	NM_000444.6(PHEX):c.1079+213T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231258	NM_000444.6(PHEX):c.1079+279C>T	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206976	NM_000444.6(PHEX):c.1080-173G>A	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252771	NM_000444.6(PHEX):c.1080-73C>T	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280071	NM_000444.6(PHEX):c.1080-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 280503	NM_000444.6(PHEX):c.1080-1G>A	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 864294	NM_000444.6(PHEX):c.1109T>G (p.Met370Arg)	PHEX (M370R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 424372	NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter)	PHEX (Q383*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280070	NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter)	PHEX (W386*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 418406	NM_000444.6(PHEX):c.1173+1G>C	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 372631	NM_000444.6(PHEX):c.1173+2T>C	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1243630	NM_000444.6(PHEX):c.1174-307T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GBenign

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