ClinVar for Gene (Select 5251) - ClinVar - NCBI

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	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 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 3068325	NM_000444.6(PHEX):c.1005dup (p.Ser336fs)	PHEX (S336fs)	Duplication (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 3066367	NM_000444.6(PHEX):c.202del (p.Ser68fs)	PHEX (S68fs)	Deletion (frameshift variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 3065587	NM_000444.6(PHEX):c.887T>C (p.Met296Thr)	PHEX (M296T)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GUncertain significance
Select item 3062557	GRCh37/hg19 Xp22.11(chrX:22161754-22215726)	PHEX	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062467	GRCh37/hg19 Xp22.11(chrX:22222044-22975163)	CBLL2, PHEX	Copy number gain	not specified	GUncertain significance
Select item 3043899	NM_000444.6(PHEX):c.1125T>A (p.Ile375=)	PHEX	Single nucleotide variant (synonymous variant)	PHEX-related condition	GLikely benign
Select item 3031085	NM_000444.6(PHEX):c.1219G>A (p.Val407Ile)	PHEX (V407I)	Single nucleotide variant (missense variant)	PHEX-related condition	GUncertain significance
Select item 3030042	NM_000444.6(PHEX):c.1706T>G (p.Leu569Arg)	PHEX, PTCHD1-AS (L569R)	Single nucleotide variant (missense variant)	PHEX-related condition	GUncertain significance
Select item 3027352	NM_000444.6(PHEX):c.329dup (p.Asn110fs)	PHEX (N110fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 3022616	NM_000444.6(PHEX):c.403G>A (p.Ala135Thr)	PHEX (A135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021571	NM_000444.6(PHEX):c.1174-11A>T	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007776	NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)	PHEX (K251E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3006512	NM_000444.6(PHEX):c.250G>A (p.Ala84Thr)	PHEX (A84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3002633	NM_000444.6(PHEX):c.440C>G (p.Ala147Gly)	PHEX (A147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2995134	NM_000444.6(PHEX):c.324A>G (p.Arg108=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2992267	NM_000444.6(PHEX):c.850-3C>T	PHEX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2989632	NM_000444.6(PHEX):c.1587-14T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982437	NM_000444.6(PHEX):c.1590del (p.Trp530fs)	PHEX (W530fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2982435	NM_000444.6(PHEX):c.1065del (p.Ser356fs)	PHEX (S356fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2982138	NM_000444.6(PHEX):c.504C>T (p.Pro168=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2981663	NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)	PHEX (V506I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981449	NM_000444.6(PHEX):c.579G>A (p.Thr193=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2980524	NM_000444.6(PHEX):c.708T>C (p.Leu236=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975556	NM_000444.6(PHEX):c.1111G>A (p.Val371Ile)	PHEX (V371I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972396	NM_000444.6(PHEX):c.286G>A (p.Glu96Lys)	PHEX (E96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2966213	NM_000444.6(PHEX):c.119-10_119-9del	PHEX	Deletion (intron variant)	not provided	GLikely benign
Select item 2965561	NM_000444.6(PHEX):c.614G>A (p.Arg205His)	PHEX (R205H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961758	NM_000444.6(PHEX):c.1149G>A (p.Gln383=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2915528	NM_000444.6(PHEX):c.589C>T (p.Gln197Ter)	PHEX (Q197*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2910482	NM_000444.6(PHEX):c.1604C>T (p.Thr535Met)	PHEX (T535M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909415	NM_000444.6(PHEX):c.44C>G (p.Ala15Gly)	PHEX (A15G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2901500	NM_000444.6(PHEX):c.1154G>A (p.Arg385Lys)	PHEX (R385K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895770	NM_000444.6(PHEX):c.1900-6_1900-3dup	PTCHD1-AS, PHEX	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 2892779	NM_000444.6(PHEX):c.901A>C (p.Asn301His)	PHEX (N301H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2889880	NM_000444.6(PHEX):c.1572C>T (p.Ala524=)	PHEX	Single nucleotide variant (synonymous variant)	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 2880743	NM_000444.6(PHEX):c.-429T>C	PHEX	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 2858573	NM_000444.6(PHEX):c.764A>T (p.Asp255Val)	PHEX (D255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853990	NM_000444.6(PHEX):c.1928dup (p.Asn643fs)	PHEX, PTCHD1-AS (N643fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2853306	NM_000444.6(PHEX):c.184G>A (p.Ala62Thr)	PHEX (A62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846402	NM_000444.6(PHEX):c.367del (p.Ile123fs)	PHEX (I123fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2846329	NM_000444.6(PHEX):c.961_968dup (p.Asp323fs)	PHEX (D323fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2844260	NM_000444.6(PHEX):c.944dup (p.Tyr317fs)	PHEX (Y317fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2843211	NM_000444.6(PHEX):c.1396A>C (p.Lys466Gln)	PHEX (K466Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842017	NM_000444.6(PHEX):c.1196dup (p.Leu399fs)	PHEX (L399fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2841596	NM_000444.6(PHEX):c.264G>A (p.Trp88Ter)	PHEX (W88*)	Single nucleotide variant (nonsense)	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 2840012	NM_000444.6(PHEX):c.1325T>A (p.Val442Asp)	PHEX (V442D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2835741	NM_000444.6(PHEX):c.853_856dup (p.Ile286fs)	PHEX (I286fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2831757	NM_000444.6(PHEX):c.1263G>A (p.Met421Ile)	PHEX (M421I)	Single nucleotide variant (missense variant)	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 2823669	NM_000444.6(PHEX):c.1345del (p.Met449fs)	PHEX (M449fs)	Deletion (frameshift variant)	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 2823267	NM_000444.6(PHEX):c.1364del (p.Glu455fs)	PHEX (E455fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2823266	NM_000444.6(PHEX):c.1495G>T (p.Glu499Ter)	PHEX (E499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2818118	NM_000444.6(PHEX):c.436+2_436+3del	PHEX	Deletion (splice donor variant)	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 2816022	NM_000444.6(PHEX):c.663+11G>T	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2814748	NM_000444.6(PHEX):c.1479del (p.Ala494fs)	PHEX, PHEX-AS1 (A494fs)	Deletion (frameshift variant)	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 2809625	NM_000444.6(PHEX):c.1303-3T>C	PHEX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2792492	NM_000444.6(PHEX):c.1344del (p.Asp448fs)	PHEX (D448fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2790073	NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser)	PHEX (L399S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788689	NM_000444.6(PHEX):c.378G>A (p.Arg126=)	PHEX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782017	NM_000444.6(PHEX):c.620A>G (p.Tyr207Cys)	PHEX (Y207C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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, PHEX-AS1 (V472D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2780460	NM_000444.6(PHEX):c.732+1G>A	PHEX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 2773233	NM_000444.6(PHEX):c.261_264dup (p.Ile89fs)	PHEX (I89fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2773034	NM_000444.6(PHEX):c.832G>A (p.Glu278Lys)	PHEX (E278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768484	NM_000444.6(PHEX):c.436+3G>T	PHEX	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2767642	NM_000444.6(PHEX):c.1776_1778dup (p.Tyr593Ter)	PHEX, PTCHD1-AS (Y593*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2766105	NM_000444.6(PHEX):c.1137del (p.Ser379fs)	PHEX (S379fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2762893	NM_000444.6(PHEX):c.1076del (p.Lys359fs)	PHEX (K359fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2762362	NM_000444.6(PHEX):c.239del (p.Phe80fs)	PHEX (F80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2757221	NM_000444.6(PHEX):c.1249G>A (p.Val417Ile)	PHEX (V417I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747971	NM_000444.6(PHEX):c.1019del (p.Val340fs)	PHEX (V340fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2747498	NM_000444.6(PHEX):c.295_304del (p.Pro99fs)	PHEX (P99fs)	Deletion (frameshift variant)	not provided	GPathogenic

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