IL15RA[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 2640291	NM_002189.4(IL15RA):c.750T>C (p.Thr250=)	IL15RA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709069	NM_002189.4(IL15RA):c.715G>A (p.Val239Ile)	IL15RA (V206I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2411569	NM_002189.4(IL15RA):c.704C>T (p.Pro235Leu)	IL15RA (P199L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109095	NM_002189.4(IL15RA):c.700C>T (p.Pro234Ser)	IL15RA (P198S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3109094	NM_002189.4(IL15RA):c.665C>T (p.Ser222Phe)	IL15RA (S186F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559244	NM_002189.4(IL15RA):c.661G>A (p.Val221Met)	IL15RA (V188M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587921	NM_002189.4(IL15RA):c.629C>T (p.Thr210Met)	IL15RA (T210M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1232028	NM_002189.4(IL15RA):c.545A>C (p.Asn182Thr)	IL15RA (N113T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781672	NM_002189.4(IL15RA):c.513C>G (p.Ser171=)	IL15RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2615585	NM_002189.4(IL15RA):c.508T>C (p.Ser170Pro)	IL15RA (S170P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109093	NM_002189.4(IL15RA):c.506A>G (p.Glu169Gly)	IL15RA (E100G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592802	NM_002189.4(IL15RA):c.443C>T (p.Pro148Leu)	IL15RA (P148L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109092	NM_002189.4(IL15RA):c.421G>A (p.Ala141Thr)	IL15RA (A166T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528975	NM_002189.4(IL15RA):c.419C>T (p.Ala140Val)	IL15RA (A104V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2361563	NM_002189.4(IL15RA):c.416C>T (p.Thr139Ile)	IL15RA (T106I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109091	NM_002189.4(IL15RA):c.400C>T (p.Pro134Ser)	IL15RA (P159S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2402394	NM_002189.4(IL15RA):c.361A>G (p.Ser121Gly)	IL15RA (S121G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770960	NM_002189.4(IL15RA):c.332C>T (p.Thr111Met)	IL15RA (T111M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3109090	NM_002189.4(IL15RA):c.310C>T (p.Pro104Ser)	IL15RA (P190S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109089	NM_002189.4(IL15RA):c.242C>T (p.Thr81Met)	IL15RA (T45M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109088	NM_002189.4(IL15RA):c.238G>T (p.Ala80Ser)	IL15RA (A80S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603256	NM_002189.4(IL15RA):c.59T>C (p.Leu20Pro)	IL15RA, LOC130003225 (L20P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375600	NM_002189.4(IL15RA):c.19C>T (p.Arg7Cys)	IL15RA, LOC130003225 (R42C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238757	NM_002189.4(IL15RA):c.8C>T (p.Pro3Leu)	IL15RA, LOC130003225 (P38L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773514	NM_001256765.1(IL15RA):c.15G>A (p.Gly5=)	IL15RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3063136	GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	FBH1, IL15RA +3 more	Copy number gain	not specified	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527576	GRCh37/hg19 10p15.1(chr10:5952259-6486611)	FBH1, IL15RA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58