ClinVar for Gene (Select 100873065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212052	NM_000444.6(PHEX):c.2092C>T (p.Pro698Ser)	PHEX, PTCHD1-AS (P698S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3138012	NM_152577.4(CBLL2):c.875T>G (p.Val292Gly)	CBLL2, PTCHD1-AS (V292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138011	NM_152577.4(CBLL2):c.809C>T (p.Ser270Leu)	CBLL2, PTCHD1-AS (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138010	NM_152577.4(CBLL2):c.638C>A (p.Pro213Gln)	CBLL2, PTCHD1-AS (P213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138009	NM_152577.4(CBLL2):c.587T>C (p.Met196Thr)	CBLL2, PTCHD1-AS (M196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138008	NM_152577.4(CBLL2):c.577G>C (p.Val193Leu)	CBLL2, PTCHD1-AS (V193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138007	NM_152577.4(CBLL2):c.349G>C (p.Val117Leu)	CBLL2, PTCHD1-AS (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138006	NM_152577.4(CBLL2):c.322C>G (p.Arg108Gly)	CBLL2, PTCHD1-AS (R108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138005	NM_152577.4(CBLL2):c.284G>A (p.Arg95His)	CBLL2, PTCHD1-AS (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138004	NM_152577.4(CBLL2):c.1271G>C (p.Arg424Pro)	CBLL2, PTCHD1-AS (R424P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138003	NM_152577.4(CBLL2):c.1202C>T (p.Pro401Leu)	CBLL2, PTCHD1-AS (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081121	NM_182699.4(DDX53):c.998G>A (p.Arg333Lys)	DDX53, PTCHD1-AS (R333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081120	NM_182699.4(DDX53):c.564G>A (p.Met188Ile)	DDX53, PTCHD1-AS (M188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081119	NM_182699.4(DDX53):c.287T>C (p.Phe96Ser)	DDX53, PTCHD1-AS (F96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081118	NM_182699.4(DDX53):c.1604A>G (p.Asp535Gly)	DDX53, PTCHD1-AS (D535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081117	NM_182699.4(DDX53):c.1392G>A (p.Met464Ile)	DDX53, PTCHD1-AS (M464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068548	NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr)	PHEX, PTCHD1-AS (A573T)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 3058954	NM_182699.4(DDX53):c.1074C>T (p.Asp358=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3055488	NM_182699.4(DDX53):c.1143G>T (p.Met381Ile)	DDX53, PTCHD1-AS (M381I)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3055441	NM_182699.4(DDX53):c.1172G>T (p.Arg391Met)	DDX53, PTCHD1-AS (R391M)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3055405	NM_182699.4(DDX53):c.185T>C (p.Val62Ala)	DDX53, PTCHD1-AS (V62A)	Single nucleotide variant (missense variant)	DDX53-related disorder	GBenign
Select item 3051977	NM_182699.4(DDX53):c.1117T>C (p.Leu373=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GLikely benign
Select item 3048728	NM_182699.4(DDX53):c.640C>T (p.Arg214Cys)	DDX53, PTCHD1-AS (R214C)	Single nucleotide variant (missense variant)	DDX53-related disorder	GLikely benign
Select item 3048048	NM_182699.4(DDX53):c.1245T>C (p.Arg415=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3042881	NM_182699.4(DDX53):c.1599T>C (p.Leu533=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GBenign
Select item 3035162	NM_182699.4(DDX53):c.1044C>T (p.Ile348=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	DDX53-related disorder	GLikely benign
Select item 3030042	NM_000444.6(PHEX):c.1706T>G (p.Leu569Arg)	PHEX, PTCHD1-AS (L569R)	Single nucleotide variant (missense variant)	PHEX-related disorder	GUncertain significance
Select item 3029126	NM_182699.4(DDX53):c.1144C>A (p.Leu382Met)	PTCHD1-AS, DDX53 (L382M)	Single nucleotide variant (missense variant)	DDX53-related disorder	GLikely benign
Select item 3024184	NM_000444.6(PHEX):c.2150T>G (p.Val717Gly)	PHEX, PTCHD1-AS (V717G)	Single nucleotide variant (missense variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 3003555	NM_000444.6(PHEX):c.1701-17A>G	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997328	NM_000444.6(PHEX):c.1814C>T (p.Thr605Ile)	PHEX, PTCHD1-AS (T605I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994521	NM_000444.6(PHEX):c.2147+14T>C	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970348	NM_000444.6(PHEX):c.2148-8T>G	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895770	NM_000444.6(PHEX):c.1900-6_1900-3dup	PHEX, PTCHD1-AS	Duplication (intron variant)	PHEX-related disorder +1 more	GLikely benign
Select item 2892025	NM_000444.6(PHEX):c.2070+10C>T	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2884099	NM_000444.6(PHEX):c.2039_2042dup (p.Asn681fs)	PHEX, PTCHD1-AS (N681fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2869157	NM_000444.6(PHEX):c.2064T>C (p.Tyr688=)	PHEX, PTCHD1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2866352	NM_000444.6(PHEX):c.1974del (p.Lys659fs)	PHEX, PTCHD1-AS (K659fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2865883	NM_000444.6(PHEX):c.1822_1823del (p.Glu608fs)	PHEX, PTCHD1-AS (E608fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853990	NM_000444.6(PHEX):c.1928dup (p.Asn643fs)	PHEX, PTCHD1-AS (N643fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2841363	NM_000444.6(PHEX):c.1815T>G (p.Thr605=)	PHEX, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837394	NM_000444.6(PHEX):c.1733_1735dup (p.Val578_Gly579insVal)	PHEX, PTCHD1-AS	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2827291	NM_000444.6(PHEX):c.1924G>T (p.Glu642Ter)	PHEX, PTCHD1-AS (E642*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2825829	NM_000444.6(PHEX):c.2172del (p.Phe724fs)	PHEX, PTCHD1-AS (F724fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2823577	NM_000444.6(PHEX):c.2025_2034dup (p.Thr679fs)	PHEX, PTCHD1-AS (T679fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2818072	NM_000444.6(PHEX):c.2110del (p.Gln704fs)	PHEX, PTCHD1-AS (Q704fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2817618	NM_000444.6(PHEX):c.1816G>T (p.Glu606Ter)	PHEX, PTCHD1-AS (E606*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2815950	NM_000444.6(PHEX):c.2045_2048dup (p.Phe684fs)	PHEX, PTCHD1-AS (F684fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2811467	NM_000444.6(PHEX):c.1767_1768+3del	PHEX, PTCHD1-AS	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2809767	NM_000444.6(PHEX):c.1675_1676del (p.Phe559fs)	PHEX, PTCHD1-AS (F559fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2809610	NM_000444.6(PHEX):c.1981A>G (p.Ile661Val)	PHEX, PTCHD1-AS (I661V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2809224	NM_000444.6(PHEX):c.2181_2191del (p.Phe727_Gln728insTer)	PHEX, PTCHD1-AS	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2804443	NM_000444.6(PHEX):c.2147+12A>C	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779497	NM_000444.6(PHEX):c.2098G>A (p.Ala700Thr)	PHEX, PTCHD1-AS (A700T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767642	NM_000444.6(PHEX):c.1776_1778dup (p.Tyr593Ter)	PHEX, PTCHD1-AS (Y593*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2746795	NM_000444.6(PHEX):c.1863_1899+364del	PHEX, PTCHD1-AS	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2745731	NM_000444.6(PHEX):c.2214G>T (p.Thr738=)	PHEX, PTCHD1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2744604	NM_000444.6(PHEX):c.1798G>C (p.Asp600His)	PHEX, PTCHD1-AS (D600H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742735	NM_000444.6(PHEX):c.1865dup (p.Tyr622Ter)	PHEX, PTCHD1-AS (Y622*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2737130	NM_000444.6(PHEX):c.2238C>A (p.Cys746Ter)	PHEX, PTCHD1-AS (C746*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2737129	NM_000444.6(PHEX):c.2158G>A (p.Ala720Thr)	PHEX, PTCHD1-AS (C694Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2737127	NM_000444.6(PHEX):c.2002_2006dup (p.Glu669fs)	PHEX, PTCHD1-AS (E669fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2737126	NM_000444.6(PHEX):c.1942G>T (p.Gly648Ter)	PHEX, PTCHD1-AS (G648*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2726937	NM_000444.6(PHEX):c.1768+10G>A	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721700	NM_000444.6(PHEX):c.1908G>C (p.Gly636=)	PHEX, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708849	NM_000444.6(PHEX):c.2173_2174insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCCAATTAGTAACTTTG (p.Phe724_Glu725insValPhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuProIleSerAsnPhe)	PHEX, PTCHD1-AS	Insertion (inframe_insertion +1 more)	not provided	GPathogenic
Select item 2703385	NM_000444.6(PHEX):c.2059_2060dup (p.Ser687fs)	PHEX, PTCHD1-AS (S687fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2695522	NM_000444.6(PHEX):c.1965+3del	PHEX, PTCHD1-AS	Deletion (intron variant)	not provided	GUncertain significance
Select item 2688921	NM_182699.4(DDX53):c.259G>T (p.Gly87Trp)	DDX53, PTCHD1-AS (G87W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2686054	NM_000444.6(PHEX):c.2148-10C>A	PHEX, PTCHD1-AS	Single nucleotide variant (intron variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 2664984	NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala)	PHEX, PTCHD1-AS (G719A +1 more)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2664929	NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs)	PHEX, PTCHD1-AS (F560fs)	Microsatellite (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2660164	NM_182699.4(DDX53):c.1059T>C (p.Pro353=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660163	NM_182699.4(DDX53):c.813G>A (p.Gly271=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660162	NM_182699.4(DDX53):c.207A>C (p.Ser69=)	DDX53, PTCHD1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660161	NM_182699.4(DDX53):c.13G>A (p.Ala5Thr)	DDX53, PTCHD1-AS (A5T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2660160	NM_152577.4(CBLL2):c.929G>A (p.Arg310His)	CBLL2, PTCHD1-AS (R310H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2627120	NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)	PHEX, PTCHD1-AS (W603*)	Single nucleotide variant (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2623275	NM_182699.4(DDX53):c.260G>C (p.Gly87Ala)	DDX53, PTCHD1-AS (G87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610847	NM_152577.4(CBLL2):c.953C>T (p.Thr318Met)	CBLL2, PTCHD1-AS (T318M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601344	NM_152577.4(CBLL2):c.728T>C (p.Ile243Thr)	CBLL2, PTCHD1-AS (I243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597564	NM_152577.4(CBLL2):c.281C>T (p.Pro94Leu)	CBLL2, PTCHD1-AS (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588910	NM_182699.4(DDX53):c.217G>C (p.Asp73His)	DDX53, PTCHD1-AS (D73H)	Single nucleotide variant (missense variant)	DDX53-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2577444	NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter)	PHEX, PTCHD1-AS (Y626*)	Duplication (nonsense)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2573892	NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)	PHEX, PTCHD1-AS (L673P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2573409	NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)	PHEX, PTCHD1-AS (N643fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 2568698	NM_152577.4(CBLL2):c.934C>G (p.Gln312Glu)	CBLL2, PTCHD1-AS (Q312E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549622	NM_182699.4(DDX53):c.1355A>G (p.Glu452Gly)	DDX53, PTCHD1-AS (E452G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529468	NM_182699.4(DDX53):c.1511G>C (p.Ser504Thr)	DDX53, PTCHD1-AS (S504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527246	NM_000444.6(PHEX):c.2153A>G (p.Asn718Ser)	PHEX, PTCHD1-AS (N718S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516544	NM_182699.4(DDX53):c.80G>A (p.Ser27Asn)	DDX53, PTCHD1-AS (S27N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2514719	NM_182699.4(DDX53):c.787A>G (p.Ile263Val)	DDX53, PTCHD1-AS (I263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512312	NM_152577.4(CBLL2):c.523G>T (p.Asp175Tyr)	CBLL2, PTCHD1-AS (D175Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506512	NM_000444.6(PHEX):c.1701A>C (p.Arg567=)	PHEX, PTCHD1-AS	Single nucleotide variant (synonymous variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2464576	NM_152577.4(CBLL2):c.828A>G (p.Ile276Met)	CBLL2, PTCHD1-AS (I276M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457276	NM_182699.4(DDX53):c.649C>T (p.Pro217Ser)	DDX53, PTCHD1-AS (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446435	NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)	PHEX, PTCHD1-AS (T677fs)	Deletion (non-coding transcript variant +1 more)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely pathogenic
Select item 2434681	NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)	PHEX, PTCHD1-AS (G649D)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GConflicting classifications of pathogenicity
Select item 2408926	NM_182699.4(DDX53):c.1157T>C (p.Phe386Ser)	DDX53, PTCHD1-AS (F386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400300	NM_182699.4(DDX53):c.1648G>A (p.Val550Ile)	DDX53, PTCHD1-AS (V550I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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