ClinVar for Gene (Select 3601) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341129	NC_000010.11:g.5955208_7871319dup	ATP5F1C, LINC00706 +104 more	Duplication	not provided	GUncertain significance
Select item 3285740	NM_002189.4(IL15RA):c.74C>T (p.Pro25Leu)	IL15RA, LOC130003225 (P60L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285739	NM_002189.4(IL15RA):c.524C>G (p.Pro175Arg)	IL15RA (P261R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285738	NM_002189.4(IL15RA):c.202G>A (p.Gly68Ser)	IL15RA (G154S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285736	NM_002189.4(IL15RA):c.314C>T (p.Ala105Val)	IL15RA (A105V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3285735	NM_002189.4(IL15RA):c.364C>T (p.Leu122Phe)	IL15RA (L122F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244845	NC_000010.10:g.(?_5936453)_(6104114_?)dup	FBH1, IL15RA +1 more	Duplication	Immunodeficiency due to CD25 deficiency	GUncertain significance
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 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 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 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 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 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 3063136	GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	FBH1, IL15RA +3 more	Copy number gain	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
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 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
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 773514	NM_001256765.1(IL15RA):c.15G>A (p.Gly5=)	IL15RA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
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)	INA, INPP5A +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	A1CF, ABCC2 +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
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 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	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 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	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 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	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 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

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Links from Gene

Items: 65