Related gene-specific medical variations for Gene (Select 100873942) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068875	NM_000444.6(PHEX):c.1481C>G (p.Ala494Gly)	PHEX, PHEX-AS1 (A494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2814748	NM_000444.6(PHEX):c.1479del (p.Ala494fs)	PHEX, PHEX-AS1 (A494fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2780462	NM_000444.6(PHEX):c.1461del (p.His487fs)	PHEX, PHEX-AS1 (H487fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2780461	NM_000444.6(PHEX):c.1415T>A (p.Val472Asp)	PHEX-AS1, PHEX (V472D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2585572	NM_000444.6(PHEX):c.1482+1del	PHEX, PHEX-AS1	Deletion (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2572637	NM_000444.6(PHEX):c.1474del (p.Leu492fs)	PHEX, PHEX-AS1 (L492fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2559701	NM_000444.6(PHEX):c.1448T>C (p.Met483Thr)	PHEX, PHEX-AS1 (M483T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376947	NM_000444.6(PHEX):c.1406C>T (p.Ala469Val)	PHEX, PHEX-AS1 (A469V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2106299	NM_000444.6(PHEX):c.1405-2_1415del	PHEX, PHEX-AS1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2078121	NM_000444.6(PHEX):c.1454A>G (p.Asp485Gly)	PHEX, PHEX-AS1 (D485G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914055	NM_000444.6(PHEX):c.1445_1482+235del	PHEX, PHEX-AS1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1687473	NM_000444.6(PHEX):c.1479dup (p.Ala494fs)	PHEX, PHEX-AS1 (A494fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 1686042	NM_000444.6(PHEX):c.1482dup (p.Ile495fs)	PHEX, PHEX-AS1 (I495fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 1634347	NM_000444.6(PHEX):c.1434T>C (p.Tyr478=)	PHEX, PHEX-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559183	NM_000444.6(PHEX):c.1405-4del	PHEX, PHEX-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1485864	NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)	PHEX, PHEX-AS1 (V476I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1237332	NM_000444.6(PHEX):c.1482+271G>A	PHEX, PHEX-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1158266	NM_000444.6(PHEX):c.1470A>T (p.Glu490Asp)	PHEX, PHEX-AS1 (E490D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1073420	NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs)	PHEX, PHEX-AS1 (I482fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1035780	NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal)	PHEX, PHEX-AS1	Deletion (inframe_indel)	not provided	GPathogenic
Select item 964395	NM_000444.6(PHEX):c.1482+3A>C	PHEX, PHEX-AS1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 944613	NM_000444.6(PHEX):c.1405-3739_1459del	PHEX, PHEX-AS1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 942929	NM_000444.6(PHEX):c.1482+2T>G	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 940437	NM_000444.6(PHEX):c.1482+1G>C	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 872224	NM_000444.6(PHEX):c.1482+1G>T	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 803758	NM_000444.6(PHEX):c.1425del (p.Val476fs)	PHEX, PHEX-AS1 (V476fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 713929	NM_000444.6(PHEX):c.1437A>G (p.Pro479=)	PHEX, PHEX-AS1	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GBenign/Likely benign
Select item 438558	NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	PHEX-AS1, PHEX (A469E)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 438500	NM_000444.6(PHEX):c.1482+5G>C	PHEX, PHEX-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 418407	NM_000444.6(PHEX):c.1482+1G>A	PHEX, PHEX-AS1	Single nucleotide variant (splice donor variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more	GPathogenic/Likely pathogenic
Select item 387377	NM_000444.6(PHEX):c.1482+16A>C	PHEX, PHEX-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 386912	NM_000444.6(PHEX):c.1461T>C (p.His487=)	PHEX, PHEX-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 280073	NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter)	PHEX-AS1, PHEX (Y478*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 34