3575[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 948034	NM_002185.5(IL7R):c.2T>G (p.Met1Arg)	IL7R (M1R)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104	GLikely pathogenic
Select item 2760257	NM_002185.5(IL7R):c.10C>T (p.Leu4=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2056473	NM_002185.5(IL7R):c.11T>C (p.Leu4Pro)	IL7R (L4P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1063119	NM_002185.5(IL7R):c.16A>G (p.Thr6Ala)	IL7R (T6A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2613746	NM_002185.5(IL7R):c.20C>T (p.Thr7Ile)	IL7R (T7I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189733	NM_002185.5(IL7R):c.26G>C (p.Gly9Ala)	IL7R (G9A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2110182	NM_002185.5(IL7R):c.32T>G (p.Val11Gly)	IL7R (V11G)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1453790	NM_002185.5(IL7R):c.37del (p.Ser13fs)	IL7R (S13fs)	Deletion (non-coding transcript variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 961385	NM_002185.5(IL7R):c.32T>C (p.Val11Ala)	IL7R (V11A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1683587	NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	IL7R (L14S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 2965047	NM_002185.5(IL7R):c.51C>A (p.Val17=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 533084	NM_002185.5(IL7R):c.51C>T (p.Val17=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1442822	NM_002185.5(IL7R):c.53T>C (p.Val18Ala)	IL7R (V18A)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 951752	NM_002185.5(IL7R):c.59G>A (p.Gly20Glu)	IL7R (G20E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104 +1 more	GUncertain significance
Select item 2962423	NM_002185.5(IL7R):c.66T>C (p.Ser22=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2734712	NM_002185.5(IL7R):c.76C>T (p.Gln26Ter)	IL7R (Q26*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 2763597	NM_002185.5(IL7R):c.80del (p.Asn27fs)	IL7R (N27fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 533060	NM_002185.5(IL7R):c.81T>A (p.Asn27Lys)	IL7R (N27K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 963341	NM_002185.5(IL7R):c.82+3del	IL7R	Deletion (intron variant)	Immunodeficiency 104	GUncertain significance
Select item 2965652	NM_002185.5(IL7R):c.82+8A>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2762318	NM_002185.5(IL7R):c.82+10T>G	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2902308	NM_002185.5(IL7R):c.82+11T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2826929	NM_002185.5(IL7R):c.82+14A>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2187538	NM_002185.5(IL7R):c.82+14A>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 258579	NM_002185.5(IL7R):c.82+16G>C	IL7R	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1267196	NM_002185.5(IL7R):c.82+46C>T	IL7R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1291030	NM_002185.5(IL7R):c.82+74C>G	IL7R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262774	NM_002185.5(IL7R):c.82+101A>G	IL7R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1278595	NM_002185.5(IL7R):c.82+147_82+148insC	IL7R	Insertion (intron variant)	not provided	GBenign
Select item 1287233	NM_002185.5(IL7R):c.83-317A>G	IL7R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260425	NM_002185.5(IL7R):c.83-187T>C	IL7R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2849051	NM_002185.5(IL7R):c.83-20G>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 650715	NC_000005.10:g.(?_35860832)_(35871233_?)del	IL7R, LOC129993794	Deletion	Immunodeficiency 104	GPathogenic
Select item 36397	NM_002185.5(IL7R):c.83-18A>G	IL7R	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease	GUncertain significance
Select item 2202033	NM_002185.5(IL7R):c.83-16G>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2787189	NM_002185.5(IL7R):c.83-12G>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1948503	NM_002185.5(IL7R):c.83-9C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2968215	NM_002185.5(IL7R):c.83-6C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1038695	NM_002185.5(IL7R):c.83-3C>T	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GUncertain significance
Select item 632462	NM_002185.5(IL7R):c.83-2A>G	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GUncertain significance
Select item 353259	NM_002185.5(IL7R):c.83-2A>T	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GPathogenic FDA Recognized database
Select item 569326	NM_002185.5(IL7R):c.83-1G>A	IL7R	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 104	GPathogenic
Select item 2966025	NM_002185.5(IL7R):c.87C>T (p.Asp29=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2824349	NM_002185.5(IL7R):c.99A>G (p.Ala33=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2992710	NM_002185.5(IL7R):c.102A>G (p.Glu34=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 3109466	NM_002185.5(IL7R):c.103C>A (p.Leu35Met)	IL7R (L35M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1394960	NM_002185.5(IL7R):c.104T>A (p.Leu35Gln)	IL7R (L35Q)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 353260	NM_002185.5(IL7R):c.111C>T (p.Asp37=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GConflicting classifications of pathogenicity
Select item 2711066	NM_002185.5(IL7R):c.117A>T (p.Ser39=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 1693469	NM_002185.5(IL7R):c.120C>G (p.Phe40Leu)	IL7R	Single nucleotide variant (missense variant +1 more)	IMMUNODEFICIENCY 104, SEVERE COMBINED, SUSCEPTIBILITY TO	Grisk factor
Select item 1465004	NM_002185.5(IL7R):c.126C>G (p.Cys42Trp)	IL7R (C42W)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 1990608	NM_002185.5(IL7R):c.128A>G (p.Tyr43Cys)	IL7R (Y43C)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2903929	NM_002185.5(IL7R):c.129T>C (p.Tyr43=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 377976	NM_002185.5(IL7R):c.132C>T (p.Ser44=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 624596	NM_002185.5(IL7R):c.134A>C (p.Gln45Pro)	IL7R (Q45P)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624585	NM_002185.5(IL7R):c.[134A>C;537+1G>A]	IL7R (Q45P)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 104	GPathogenic
Select item 1393864	NM_002185.5(IL7R):c.135G>C (p.Gln45His)	IL7R (Q45H)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely pathogenic
Select item 3065884	NM_002185.5(IL7R):c.137T>G (p.Leu46Trp)	IL7R (L46W)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2809167	NM_002185.5(IL7R):c.141A>G (p.Glu47=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2693245	NM_002185.5(IL7R):c.145A>G (p.Asn49Asp)	IL7R (N49D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134524	NM_002185.5(IL7R):c.149G>T (p.Gly50Val)	IL7R (G50V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 134523	NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)	IL7R (S51L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely benign FDA Recognized database
Select item 353261	NM_002185.5(IL7R):c.153G>A (p.Ser51=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104 +1 more	GBenign
Select item 2404318	NM_002185.5(IL7R):c.156G>T (p.Gln52His)	IL7R (Q52H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 640639	NM_002185.5(IL7R):c.156_157delinsTT (p.Gln52_His53delinsHisTyr)	IL7R	Indel (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2404319	NM_002185.5(IL7R):c.157C>T (p.His53Tyr)	IL7R (H53Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 624597	NM_002185.5(IL7R):c.160T>C (p.Ser54Pro)	IL7R (S54P)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624586	NM_002185.5(IL7R):c.[160T>C;245G>T]	IL7R (S54P +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GLikely pathogenic
Select item 654756	NM_002185.5(IL7R):c.164T>C (p.Leu55Pro)	IL7R (L55P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 1086914	NM_002185.5(IL7R):c.165G>A (p.Leu55=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 939271	NM_002185.5(IL7R):c.169T>C (p.Cys57Arg)	IL7R (C57R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2734713	NM_002185.5(IL7R):c.177del (p.Phe59fs)	IL7R (F59fs)	Deletion (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 935733	NM_002185.5(IL7R):c.178G>A (p.Glu60Lys)	IL7R (E60K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance
Select item 2030679	NM_002185.5(IL7R):c.183C>T (p.Asp61=)	IL7R	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 2708090	NM_002185.5(IL7R):c.190_193dup (p.Asn65fs)	IL7R (N65fs)	Duplication (frameshift variant +1 more)	Immunodeficiency 104	GPathogenic
Select item 1114847	NM_002185.5(IL7R):c.197_198delinsCT (p.Ile66Thr)	IL7R (I66T)	Indel (missense variant +1 more)	Immunodeficiency 104	GLikely benign
Select item 14839	NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	IL7R (I66T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GBenign FDA Recognized database
Select item 800346	NM_002185.5(IL7R):c.205C>G (p.Leu69Val)	IL7R (L69V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 418257	NM_002185.5(IL7R):c.212T>C (p.Phe71Ser)	IL7R (F71S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2795280	NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)	IL7R (E72*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 104	GPathogenic
Select item 36390	NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)	IL7R (E72Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 830061	NM_002185.5(IL7R):c.221+1G>A	IL7R	Single nucleotide variant (splice donor variant)	Immunodeficiency 104	GPathogenic
Select item 265195	NM_002185.5(IL7R):c.221+2T>G	IL7R	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 906136	NM_002185.5(IL7R):c.221+7G>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GConflicting classifications of pathogenicity
Select item 2864726	NM_002185.5(IL7R):c.221+9T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 797501	NM_002185.5(IL7R):c.221+10G>A	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 2796795	NM_002185.5(IL7R):c.221+12_221+13del	IL7R	Deletion (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1619973	NM_002185.5(IL7R):c.221+12T>C	IL7R	Single nucleotide variant (intron variant)	Immunodeficiency 104	GLikely benign
Select item 1245300	NM_002185.5(IL7R):c.221+60C>G	IL7R	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2688248	NM_002185.5(IL7R):c.221+67A>G	IL7R	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1237660	NM_002185.5(IL7R):c.221+176T>G	IL7R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178063	NM_002185.5(IL7R):c.221+249C>G	IL7R	Single nucleotide variant (intron variant)	not provided	GBenign

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