ClinVar for Gene (Select 64167) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276184	NM_022350.5(ERAP2):c.1774T>A (p.Tyr592Asn)	ERAP1, ERAP2 (Y592N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276183	NM_022350.5(ERAP2):c.797A>G (p.Tyr266Cys)	ERAP1, ERAP2 (Y266C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276182	NM_022350.5(ERAP2):c.2177T>A (p.Leu726His)	ERAP1, ERAP2 (L726H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276181	NM_022350.5(ERAP2):c.842G>A (p.Gly281Glu)	ERAP1, ERAP2 (G281E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276180	NM_022350.5(ERAP2):c.2252G>A (p.Arg751His)	ERAP1, ERAP2 (R751H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276179	NM_022350.5(ERAP2):c.1382T>A (p.Ile461Asn)	ERAP1, ERAP2 (I416N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276178	NM_022350.5(ERAP2):c.2534T>C (p.Met845Thr)	ERAP1, ERAP2 (M845T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276176	NM_022350.5(ERAP2):c.583G>T (p.Ala195Ser)	ERAP1, ERAP2 (A195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276175	NM_022350.5(ERAP2):c.2693T>A (p.Ile898Asn)	ERAP1, ERAP2 (I898N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276174	NM_022350.5(ERAP2):c.236A>T (p.Asp79Val)	ERAP1, ERAP2 (D79V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276173	NM_022350.5(ERAP2):c.398C>G (p.Pro133Arg)	ERAP1, ERAP2 (P133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276172	NM_022350.5(ERAP2):c.1685A>C (p.Gln562Pro)	ERAP1, ERAP2 (Q562P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3090054	NM_022350.5(ERAP2):c.884A>T (p.Gln295Leu)	ERAP1, ERAP2 (Q295L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090053	NM_022350.5(ERAP2):c.645G>C (p.Leu215Phe)	ERAP1, ERAP2 (L215F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090052	NM_022350.5(ERAP2):c.2582C>T (p.Ala861Val)	ERAP1, ERAP2 (A816V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090051	NM_022350.5(ERAP2):c.2317C>A (p.Leu773Ile)	ERAP1, ERAP2 (L728I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090050	NM_022350.5(ERAP2):c.2284A>G (p.Asn762Asp)	ERAP1, ERAP2 (N762D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090049	NM_022350.5(ERAP2):c.2114C>T (p.Ser705Leu)	ERAP1, ERAP2 (S660L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3090048	NM_022350.5(ERAP2):c.176G>T (p.Gly59Val)	ERAP1, ERAP2 (G59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090047	NM_022350.5(ERAP2):c.16G>A (p.Ala6Thr)	ERAP1, ERAP2 (A6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090046	NM_022350.5(ERAP2):c.1486T>C (p.Trp496Arg)	ERAP1, ERAP2 (W451R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2655601	NM_022350.5(ERAP2):c.909A>G (p.Ser303=)	ERAP1, ERAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655600	NM_022350.5(ERAP2):c.637G>T (p.Glu213Ter)	ERAP1, ERAP2 (E213*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2599026	NM_022350.5(ERAP2):c.329T>C (p.Leu110Ser)	ERAP1, ERAP2 (L110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597247	NM_022350.5(ERAP2):c.2342G>C (p.Ser781Thr)	ERAP2, ERAP1 (S781T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596892	NM_022350.5(ERAP2):c.1474A>T (p.Asn492Tyr)	ERAP1, ERAP2 (N447Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596891	NM_022350.5(ERAP2):c.1473G>T (p.Lys491Asn)	ERAP1, ERAP2 (K491N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558945	NM_022350.5(ERAP2):c.1655T>A (p.Val552Asp)	ERAP1, ERAP2 (V552D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545743	NM_022350.5(ERAP2):c.1957C>A (p.Leu653Ile)	ERAP1, ERAP2 (L608I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513902	NM_022350.5(ERAP2):c.2207G>A (p.Arg736Lys)	ERAP1, ERAP2 (R691K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476879	NM_022350.5(ERAP2):c.2341A>G (p.Ser781Gly)	ERAP1, ERAP2 (S781G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470840	NM_022350.5(ERAP2):c.769G>A (p.Val257Ile)	ERAP1, ERAP2 (V257I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464505	NM_022350.5(ERAP2):c.614G>A (p.Arg205His)	ERAP1, ERAP2 (R205H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463041	NM_022350.5(ERAP2):c.1904A>G (p.Tyr635Cys)	ERAP1, ERAP2 (Y590C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408002	NM_022350.5(ERAP2):c.2873T>G (p.Val958Gly)	ERAP1, ERAP2 (V913G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398377	NM_022350.5(ERAP2):c.83T>C (p.Ile28Thr)	ERAP1, ERAP2 (I28T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393679	NM_022350.5(ERAP2):c.292G>A (p.Glu98Lys)	ERAP1, ERAP2 (E98K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378149	NM_022350.5(ERAP2):c.2735A>G (p.Gln912Arg)	ERAP1, ERAP2 (Q867R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375745	NM_022350.5(ERAP2):c.877C>T (p.Arg293Trp)	ERAP1, ERAP2 (R248W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2363491	NM_022350.5(ERAP2):c.2153T>C (p.Ile718Thr)	ERAP1, ERAP2 (I718T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357686	NM_022350.5(ERAP2):c.2594G>A (p.Arg865His)	ERAP1, ERAP2 (R865H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353032	NM_022350.5(ERAP2):c.114C>G (p.Phe38Leu)	ERAP1, ERAP2 (F38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350952	NM_022350.5(ERAP2):c.2572C>G (p.Leu858Val)	ERAP1, ERAP2 (L858V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347636	NM_022350.5(ERAP2):c.2255C>T (p.Ser752Leu)	ERAP1, ERAP2 (S752L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341351	NM_022350.5(ERAP2):c.1469C>A (p.Ala490Asp)	ERAP1, ERAP2 (A445D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329812	NM_022350.5(ERAP2):c.2437G>A (p.Glu813Lys)	ERAP1, ERAP2 (E768K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327014	NM_022350.5(ERAP2):c.89C>A (p.Pro30His)	ERAP1, ERAP2 (P30H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325859	NM_022350.5(ERAP2):c.1177G>A (p.Glu393Lys)	ERAP1, ERAP2 (E393K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318837	NM_022350.5(ERAP2):c.1611G>C (p.Met537Ile)	ERAP1, ERAP2 (M492I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311102	NM_022350.5(ERAP2):c.2797A>C (p.Thr933Pro)	ERAP1, ERAP2 (T933P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293863	NM_022350.5(ERAP2):c.1319C>T (p.Ala440Val)	ERAP1, ERAP2 (A395V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284647	NM_022350.5(ERAP2):c.1885G>A (p.Gly629Ser)	ERAP1, ERAP2 (G584S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283814	NM_022350.5(ERAP2):c.1613T>G (p.Met538Arg)	ERAP1, ERAP2 (M493R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274012	NM_022350.5(ERAP2):c.128G>C (p.Ser43Thr)	ERAP1, ERAP2 (S43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265909	NM_022350.5(ERAP2):c.2707G>A (p.Ala903Thr)	ERAP1, ERAP2 (A858T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251927	NM_022350.5(ERAP2):c.1429G>C (p.Gly477Arg)	ERAP1, ERAP2 (G477R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232451	NM_022350.5(ERAP2):c.2431C>G (p.Gln811Glu)	ERAP1, ERAP2 (Q811E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211914	NM_022350.5(ERAP2):c.835T>G (p.Ser279Ala)	ERAP1, ERAP2 (S279A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204008	NM_022350.5(ERAP2):c.858C>G (p.Ile286Met)	ERAP1, ERAP2 (I286M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 1277927	NC_000005.10:g.96875556A>G	ERAP1, ERAP2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 980168	GRCh37/hg19 5q15(chr5:96212370-96416899)x1	ERAP2, LNPEP	Copy number loss	not provided	GUncertain significance
Select item 980163	GRCh37/hg19 5q15(chr5:96151759-96483691)x3	LNPEP, ERAP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 784056	NM_022350.5(ERAP2):c.716T>C (p.Val239Ala)	ERAP1, ERAP2 (V239A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 769654	NM_022350.5(ERAP2):c.1503+3_1503+102dup	ERAP1, ERAP2	Duplication (splice donor variant)	not provided	GBenign
Select item 733219	NM_022350.5(ERAP2):c.185T>A (p.Phe62Tyr)	ERAP1, ERAP2 (F62Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 727215	NM_022350.5(ERAP2):c.1288T>C (p.Leu430=)	ERAP1, ERAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 726229	NM_022350.5(ERAP2):c.1262G>A (p.Cys421Tyr)	ERAP1, ERAP2 (C376Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 721263	NM_022350.5(ERAP2):c.2694C>T (p.Ile898=)	ERAP1, ERAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 708756	NM_022350.5(ERAP2):c.1668G>A (p.Gly556=)	ERAP1, ERAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 688145	GRCh37/hg19 5q15(chr5:95335480-97832367)x3	CAST, ERAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687706	GRCh37/hg19 5q15(chr5:96097916-96840263)x3	CAST, ERAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 198587	NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg)	ERAP1, ERAP2 (L411R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 59444	GRCh38/hg38 5q15(chr5:96792139-96966998)x3	ERAP1, ERAP2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 98