C0733682[trait identifier] AND "Institute of Human Genetics Munich, Kl - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438512	NC_000023.10:g.(?_22051124)_(22051242_22056586)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 379502	NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)	PHEX (R20*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438526	NM_000444.6(PHEX):c.78dup (p.Val27fs)	PHEX (V27fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438497	NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
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 438515	NM_000444.6(PHEX):c.119-3C>G	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438523	NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)	PHEX (Q48*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438495	NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)	PHEX (E61*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438539	NM_000444.6(PHEX):c.187+1del	PHEX	Deletion (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438537	NM_000444.6(PHEX):c.187+1G>T	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438501	NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)	PHEX (C77F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 438549	NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)	PHEX (C85R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438546	NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438518	NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)	PHEX (Y139N)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438533	NM_000444.6(PHEX):c.424del (p.Cys142fs)	PHEX (C142fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438496	NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438507	NM_000444.6(PHEX):c.436+6T>C	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438570	NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)	PHEX (L156P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438494	NM_000444.6(PHEX):c.546_549del (p.Arg183fs)	PHEX (R183fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438544	NM_000444.6(PHEX):c.591A>G (p.Gln197=)	PHEX	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438536	NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)	PHEX (Y207*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438514	NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438556	NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)	PHEX (L227I)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 419563	NM_000444.6(PHEX):c.682_683del (p.Ser228fs)	PHEX (S228fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438493	NM_000444.6(PHEX):c.704del (p.Tyr235fs)	PHEX (Y235fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438555	NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)	PHEX (L236P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438569	NM_000444.6(PHEX):c.732+5G>C	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438504	NM_000444.6(PHEX):c.732+5G>A	PHEX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438488	NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)	PHEX (E278*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 372454	NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	PHEX (R291*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438572	NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438489	NM_000444.6(PHEX):c.933+1G>T	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438552	NM_000444.6(PHEX):c.934-3_934-1delinsTCA	PHEX	Indel (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438490	NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)	PHEX (K320del)	Microsatellite (inframe_deletion)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438577	NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)	PHEX (V341D)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438508	NM_000444.6(PHEX):c.1044del (p.Asp349fs)	PHEX (D349fs)	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438565	NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del	PHEX	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438521	NM_000444.6(PHEX):c.1079+5G>A	PHEX	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 438559	NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)	PHEX (W368*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438517	NM_000444.6(PHEX):c.1134del (p.Ser379fs)	PHEX (S379fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438522	NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp)	PHEX	Indel (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438566	NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)	PHEX (C406R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 438576	NM_000444.6(PHEX):c.1269del (p.Asp424fs)	PHEX (D424fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438554	NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)	PHEX (E433*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438553	NC_000023.11:g.22130083_22232038dup	PTCHD1-AS, PHEX-AS1 +2 more	Duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1804025	NM_000444.6(PHEX):c.1303-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438505	NM_000444.6(PHEX):c.1303-1G>C	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438560	NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)	PHEX (E453D)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +3 more	GConflicting classifications of pathogenicity
Select item 427188	NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)	PHEX (W456R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GConflicting classifications of pathogenicity
Select item 280072	NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)	PHEX (W456*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 438531	NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)	PHEX (K468N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438558	NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	PHEX, PHEX-AS1 (A469E)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438503	NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del	LOC130068043, PHEX +2 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438500	NM_000444.6(PHEX):c.1482+5G>C	PHEX, PHEX-AS1	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438540	NM_000444.6(PHEX):c.1483-2A>G	PHEX	Single nucleotide variant (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438538	NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)	PHEX (Q508P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 280074	NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)	PHEX (Q515*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 438545	NM_000444.6(PHEX):c.1560del (p.Trp520fs)	PHEX (W520fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438543	NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)	PHEX (K523fs)	Insertion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438564	NM_000444.6(PHEX):c.1572dup (p.Val525fs)	PHEX (V525fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 281773	NM_000444.6(PHEX):c.1586+3_1586+6del	PHEX	Microsatellite (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438534	NM_000444.6(PHEX):c.1586+1G>A	PHEX	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438551	NM_000444.6(PHEX):c.1587-2145_1645+3342del	LOC130068043, PHEX +1 more	Deletion (splice acceptor variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438486	NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)	PHEX (W530C)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 280076	NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)	PHEX (P534L)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 438529	NC_000023.10:g.(22208620_22231047)_(22266070_?)del	LOC130068043, PHEX +1 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 279871	NM_000444.6(PHEX):c.1645+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 438506	NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)	PHEX, PTCHD1-AS (F550fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 10822	NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	PHEX, PTCHD1-AS (R567*)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 438568	NM_000444.6(PHEX):c.1700+2T>C	PHEX, PTCHD1-AS	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 438557	NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)	PTCHD1-AS, PHEX (L569P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438578	NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)	PHEX, PTCHD1-AS (A573D)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438542	NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)	PHEX, PTCHD1-AS (G579R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 226119	NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	PHEX, PTCHD1-AS (G579R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438574	NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)	PHEX, PTCHD1-AS (G585R)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438519	NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)	PHEX, PTCHD1-AS (G585E)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438520	NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)	PHEX, PTCHD1-AS (N588S)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438547	NC_000023.10:g.(22237221_22239729)_(22266070_?)del	PHEX, PTCHD1-AS	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438516	NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del	PHEX, PTCHD1-AS	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438498	NM_000444.6(PHEX):c.1768+1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 438524	NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)	PTCHD1-AS, PHEX (Y593*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 280077	NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)	PHEX, PTCHD1-AS (K595*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 438571	NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)	PHEX, PTCHD1-AS	Deletion (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438511	NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)	PTCHD1-AS, PHEX (A630fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 438573	NC_000023.10:g.(22239861_22244559)_(22266070_?)del	PHEX, PTCHD1-AS	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438525	NM_000444.6(PHEX):c.1899+2113_1957del	PHEX, PTCHD1-AS	Deletion (splice acceptor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438509	NM_000444.6(PHEX):c.1910dup (p.Arg638fs)	PHEX, PTCHD1-AS (R638fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438510	NM_000444.6(PHEX):c.1936G>C (p.Asp646His)	PHEX, PTCHD1-AS (D646H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438548	NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)	PHEX, PTCHD1-AS (R651P)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438485	NM_000444.6(PHEX):c.1965+1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438491	NM_000444.6(PHEX):c.1966-9_1966-7del	PHEX, PTCHD1-AS	Deletion (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 438575	NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)	PHEX, PTCHD1-AS (Y657*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 280082	NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)	PHEX, PTCHD1-AS (W660*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 438550	NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)	PHEX, PTCHD1-AS (R664*)	Duplication (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic
Select item 438535	NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)	PHEX, PTCHD1-AS (Q682*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 438561	NC_000023.10:g.(22245729_22263449)_(22266070_?)del	PHEX, PTCHD1-AS	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438530	Single allele	PHEX, PTCHD1-AS	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 438562	NC_000023.10:g.22256748_22370988del114241	CBLL2, PHEX +1 more	Deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 280087	NM_000444.6(PHEX):c.2071-1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 438513	NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)	PHEX, PTCHD1-AS (C693Y)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic

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