ClinVar for MedGen (Select 309957) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343811	NM_182758.4(WDR72):c.764_768del (p.Gly255fs)	WDR72 (G255fs)	Deletion (frameshift variant +1 more)	Hypophosphatemic rickets +1 more	GPathogenic/Likely pathogenic
Select item 1343094	NM_000444.6(PHEX):c.2188G>T (p.Ala730Ser)	PHEX, PTCHD1-AS (A730S)	Single nucleotide variant (missense variant +1 more)	Hypophosphatemic rickets	GLikely pathogenic
Select item 1343090	NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys)	PHEX, PTCHD1-AS (Y657C)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 1343086	NM_000444.6(PHEX):c.229T>A (p.Cys77Ser)	PHEX (C77S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets	GLikely pathogenic
Select item 1339461	NM_000444.6(PHEX):c.826A>T (p.Arg276Ter)	PHEX (R276*)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets	GPathogenic
Select item 1339460	NM_000444.6(PHEX):c.1482+2T>A	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339459	NM_000444.6(PHEX):c.663+1G>T	PHEX	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 1339458	NM_000444.6(PHEX):c.1966-1G>A	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 1339457	NM_005343.4(HRAS):c.278T>C (p.Ile93Thr)	HRAS, LRRC56 (I93T)	Single nucleotide variant (missense variant +1 more)	Hypophosphatemic rickets +1 more	GUncertain significance
Select item 1339456	NM_000444.6(PHEX):c.2071-1G>C	PTCHD1-AS, PHEX	Single nucleotide variant (splice acceptor variant +1 more)	Hypophosphatemic rickets +2 more	GPathogenic
Select item 1339446	NM_000444.6(PHEX):c.2048T>A (p.Leu683His)	PHEX, PTCHD1-AS (L683H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypophosphatemic rickets	GLikely pathogenic
Select item 1339444	NM_004407.4(DMP1):c.2T>A (p.Met1Lys)	DMP1 (M1K)	Single nucleotide variant (missense variant +1 more)	Hypophosphatemic rickets	GPathogenic
Select item 1339443	NM_000444.6(PHEX):c.1336_1337insAATA (p.Phe446Ter)	PHEX (F446*)	Insertion (nonsense)	Hypophosphatemic rickets	GPathogenic
Select item 1339442	NM_000444.6(PHEX):c.1965+1del	PHEX, PTCHD1-AS	Deletion (splice donor variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339441	NM_000444.6(PHEX):c.1920_1929del (p.Gly641fs)	PHEX, PTCHD1-AS (G641fs)	Deletion (frameshift variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339440	NM_000444.6(PHEX):c.665_674del	PHEX	Deletion (splice acceptor variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339439	NM_000444.6(PHEX):c.652_655del (p.His218fs)	PHEX (H218fs)	Deletion (frameshift variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339438	NM_000444.6(PHEX):c.567_568del (p.Gln189fs)	PHEX (Q189fs)	Deletion (frameshift variant)	Hypophosphatemic rickets	GPathogenic
Select item 1339437	NM_000444.6(PHEX):c.1316T>G (p.Val439Gly)	PHEX (V439G)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets	GLikely pathogenic
Select item 505906	NM_004407.4(DMP1):c.979C>T (p.Gln327Ter)	DMP1 (Q327* +1 more)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets	GLikely pathogenic
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 420128	NM_000444.6(PHEX):c.985dup (p.His329fs)	PHEX (H329fs)	Duplication (frameshift variant)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 419401	NM_000444.6(PHEX):c.1202del (p.Pro401fs)	PHEX (P401fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 374096	NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)	PHEX, PTCHD1-AS (F724*)	Duplication (nonsense +1 more)	Lower limb pain +2 more	GPathogenic
Select item 372454	NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)	PHEX (R291*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
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 +3 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GPathogenic
Select item 280076	NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)	PHEX (P534L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 279976	NM_000444.6(PHEX):c.1768+1G>C	PHEX, PTCHD1-AS	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets +1 more	GPathogenic
Select item 161093	NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)	ENPP1 (L611V)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets +4 more	GConflicting classifications of pathogenicity
Select item 36135	NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)	FGF23 (R179Q)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 2 +3 more	GPathogenic
Select item 13589	NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	ENPP1 (K173Q)	Single nucleotide variant (missense variant)	ENPP1-related condition +6 more	GBenign

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Items: 32